How can ovarian cancer be explained to patients? Expert Dr. Ebony Hoskins shares how she explains the diagnosis to newly diagnosed patients.
Dr. Hoskins is a board-certified gynecologic oncologist at MedStar Washington Hospital Center and assistant professor of Clinical Obstetrics and Gynecology at Georgetown University Medical Center. Hoskins sees women for gynecological malignancies, which include the treatment of endometrial, ovarian, vulva, vaginal and cervical cancers.
[ACT]IVATION TIP
“…my activation tip for someone who is newly diagnosed or may want to know more about it is distinguishing, whether it’s from the ovary, fallopian tube, or a primary peritoneal cancer.”
Dr. Hoskins, what is ovarian cancer, and how do you explain it to your newly diagnosed patients?
Dr. Ebony Hoskins:
So, ovarian cancer sounds like it’s just cancer from the ovary, but really in a gynac world, it could be a couple of things. So ovaries are where a woman ovulates, and she has follicles and kind of where we have menses and hormones, but in terms of when we say ovarian cancer, this could also include a cancer of the ovary, the fallopian tube, or a cancer of the primary peritoneum. So sometimes we may say, oh, it’s ovarian cancer, and it could be a person who has fallopian tube cancer. We treat it the same, we stage it the same. And so that’s why we kind of use it interchangeably. So my activation tip for someone who is newly diagnosed or may want to know more about it is distinguishing, whether it’s from the ovary, fallopian tube, or a primary peritoneal cancer.
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During the process of diagnosing ovarian cancer, doctors will use several tests to learn more about the tumor. The first test that doctors usually recommend is an ultrasound. This painless imaging test helps doctors see what the inside of the abdomen looks like. Doctors can use ultrasounds to detect various problems with the ovaries and nearby organs.
How Do Ultrasounds Work?
An ultrasound machine uses a small handheld tool called a transducer to send sound waves into the body. These sound waves are painless and are so high-pitched that humans can’t hear them. Echoes of the sound waves bounce back to the transducer, and the machine converts the sound waves into an image. The result is a sonogram — a picture of the tissues and organs within a particular part of the body.
There are a couple of types of ultrasound. When diagnosing potential cases of ovarian cancer, doctors often use a transvaginal ultrasound, in which a probe is placed into the vagina. Doctors may also perform a pelvic ultrasound, in which the transducer is placed on the skin of the lower part of the abdomen. Both of these approaches can capture pictures of the ovaries and uterus.
What Does the Ovary Look Like on an Ultrasound?
Sonograms from an ultrasound test can show several features of the ovary. They allow doctors to see the size and shape of the ovary. A sonogram can also look at the texture of the outer surface of the ovary. Additionally, ultrasound imaging can detect abnormalities or masses on the ovary, which may or may not be cancerous.
The Normal Ovary on an Ultrasound
This ultrasound image shows a normal right ovary that contains no ovarian follicles. (Medical Images)
In general, the ovaries appear as almond-shaped structures on either side of the uterus. In individuals who have given birth multiple times, the ovaries may have moved slightly from their original position. The ovaries also shrink after menopause, so an ultrasound may not be able to detect them in older people.
For individuals who have not yet gone through menopause and are still getting their period, their ovary will contain follicles. Ovarian follicles are small sacs. Each one contains an egg cell. Follicles develop and grow larger throughout the beginning phase of the menstrual cycle. Then, a single follicle will continue to grow until it releases an egg, called ovulation.
This ultrasound image shows a left ovary during the follicular phase (seventh day) of the menstrual cycle. The ovarian follicle (pink) measures 11 millimeters. (Medical Images)
On an ultrasound, the follicles may appear as small, dark, round shapes around the edge of the ovary. Follicles may be different sizes depending on where a person is within their menstrual cycle.
Cysts on an Ultrasound
Sometimes, an ultrasound may detect other more unusual features within an ovary. Most of these findings are not cancerous, and many are not harmful
Ovarian cysts are visible in this ultrasound image. These types of cysts are usually noncancerous and appear round and black on an ultrasound. (Adobe Stock)
A common ultrasound finding is a cyst (a fluid-filled sac). About 8 percent to 18 percent of women have cysts on their ovaries. Occasionally, ovarian cancer may appear as a cyst. However, ovarian cysts are usually benign (noncancerous). Often, cysts develop when a follicle fails to release an egg or fails to disappear after ovulation. These cysts usually go away over time. Occasionally, cysts are caused when blood or tissue from the uterus attaches to the ovary, called endometriomas. Cysts can also be teratomas — masses that form when an egg cell begins growing within the follicle.
Like follicles, cysts usually appear round and black on an ultrasound. They often have thin walls and don’t look like they contain anything inside. However, they are often larger than normal follicles.
Cysts don’t usually need any treatment and are often not a cause for concern. In some cases, doctors may recommend a follow-up ultrasound a few months later to see if the cyst has grown.
Ovarian Cancer on an Ultrasound
In rare cases, ovarian cysts or solid masses may be malignant (cancerous). The ultrasound doesn’t show for sure whether an abnormality is cancer, but it can provide clues. Malignant cysts and masses usually look a little different on an ultrasound. They may:
Be very large
Have papillary structures (bulges) on their outer or inner surface
Be divided into multiple segments called loculations
Contain blood or other material inside them, making them not look solid black all the way through
This ultrasound image shows a large ovarian cancer mass, measuring 17 centimeters in diameter. Images alone don’t necessarily reveal whether these types of abnormalities are cancerous, but they can provide clues. (CAMAL/Medical Images)
Some cases of ovarian cancer begin in the fallopian tubes (the tubes that connect the ovaries to the uterus). Fallopian tubes are usually invisible on an ultrasound. However, if there is a problem with the fallopian tube, it may appear as a long, thin mass. This may happen when the fallopian tube grows larger or fills with fluid due to conditions like a blockage, pelvic inflammatory disease, or cancer.
Doctors consider other information when deciding how likely it is that a cyst or mass is malignant. Risk factors that help indicate whether an abnormality is malignant include:
Your age
Whether you have gone through menopause
Levels of CA-125 (a protein that can serve as a sign of ovarian cancer)
How big the mass is
How much solid tissue is inside of the mass, as opposed to fluid
How many bulges or projections a mass contains
How many masses are present
Whether you have ascites (fluid in your abdomen)
If these factors indicate that you may have a malignancy, your doctor may recommend additional diagnostic tests or surgery to get a better look.
What Don’t Ultrasounds Tell You?
Although ultrasounds have several very useful purposes, they also have limitations. Doctors rely on additional diagnostic tests to gather more information about problems with the ovaries.
Whether You Have Cancer
Ultrasounds can detect abnormalities, and they can provide a clue as to whether an ovarian mass or cyst might be cancerous. However, biopsies are the only way to tell for sure whether a mass contains cancer cells.
For people with ovarian cancer, a biopsy is usually taken during surgery. Biopsies of the ovary are not usually performed before surgery because a needle biopsy of the ovary might potentially release cancer cells that were otherwise contained. The surgeon will send pieces of the mass to a laboratory where the cells will be studied under a microscope to determine whether they are cancerous. Biopsies also help determine the type of ovarian cancer.
Whether Ovarian Cancer Has Spread
The later the ovarian cancer stage is, the farther cancer cells have metastasized (spread within the body). Determining cancer’s stage is important for determining the prognosis (outlook) and knowing which treatment plan may be best.
Doctors don’t use ultrasounds to tell how far ovarian cancer cells have spread. Ultrasounds can’t distinguish whether cells are cancerous or not, and they are only used to look at one part of the body at a time. In order to determine cancer stage and locate metastases, doctors use other imaging tests or procedures. These other tests, which are often better at detecting cancer cells and show larger areas of the body, include:
Magnetic resonance imaging (MRI)
Computed tomography (CT) scan
Positron emission tomography (PET) scan
Surgery
Ultrasounds and Cancer Screening
Ultrasounds can be used to detect potential ovarian tumors. Does this mean that this test can help screen people for ovarian cancer?
Researchers have studied whether a transvaginal ultrasound helps detect ovarian cancer during its early stages. They have also studied whether adding blood tests to measure CA-125 levels helps improve ultrasound screening. However, the results were not promising. These tests often pick up benign, noncancerous conditions, which means that individuals who use these screening methods often undergo additional and sometimes unnecessary tests and surgeries. Additionally, ultrasound and CA-125 screenings don’t seem to reduce the overall number of people who die from ovarian cancer.
Experts say that individuals who have an average risk of developing ovarian cancer should not be screened using the currently available methods. However, some doctors recommend regular screening for those with a high risk of ovarian cancer. This includes women who have many family members who have had ovarian or breast cancer or women with genetic mutations in high-risk genes such as BRCA1 or BRCA2.
Talk With Others Who Understand
MyOvarianCancerTeam is the social network for people with ovarian cancer. More than 3,000 members come together to ask questions, give advice, and share their stories with others who understand life with ovarian cancer.
Are you living with ovarian cancer? Have you had to get an ultrasound test? Start a conversation by posting on MyOvarianCancerTeam.
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Why is it important to ask about metastatic breast cancer genetic testing? Find out how test results could reveal more about YOUR breast cancer and could help determine the most effective treatment approach.
Why should you ask your doctor about metastatic breast cancer genetic testing?
The National Comprehensive Cancer Network – also known as the NCCN – recommends that every metastatic breast cancer patient undergo genetic testing. The test results can help predict how your cancer may behave and could indicate that one type of treatment is more effective than another.
This testing identifies specific gene mutations, proteins, chromosomal abnormalities, and/or other molecular changes that are unique to YOU and YOUR breast cancer.
There are two main types of genetic tests used in breast cancer:
Germline or hereditary genetic testing, which identifies inherited gene mutations in the body. These mutations are present from birth, can be shared among family members and be passed on to subsequent generations.
The second is somatic or tumor genetic testing, which identifies markers that are unique to the cancer itself. It is also commonly referred to as genomic testing, biomarker testing, or molecular profiling. Somatic mutations are NOT inherited or passed down from family member to family member.
Depending on your history, your doctor may order one–or both–of these types of tests.
So why do the test results matter?
If you have specific gene mutations – such as the BRCA1 or BRCA2 inherited gene mutations – it could indicate that a targeted treatment approach may be the most effective option. For example, there are two oral targeted therapies that are approved specifically for use in metastatic patients with BRCA1-positive or BRCA2-positive breast cancer.
Results of these tests may also help you to find a clinical trial that may be appropriate for your particular cancer.
Additionally, results from germline genetic testing may suggest that close family members should also be tested to determine their risk.
How can you insist on the best breast cancer care?
First, always speak up and ask questions. Remember, you have a voice in YOUR breast cancer care.
Ask your doctor if you have had–or will receive–genetic testing, including germline and somatic testing.
If you have already undergone genetic testing, bring a copy of your results to your current doctor, so they can understand your results and determine whether additional testing is needed.
Have a discussion with your healthcare team about the test results – including which markers were detected and how results may impact your care and treatment plan.
Ask whether your family members should meet with a genetic counselor or undergo testing to help gauge their risk of developing breast cancer.
And, finally, bring a friend or a loved one to your appointments to help you process and recall information.
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“To be empowered you have to be open, to want to do it, and to accept where you are.” – Dr. Alexis Chase, An MPN Empowered Patient
Dr. Alexis Chase has had a pretty interesting life, but she doesn’t think that makes her unique. She says she thinks all women have interesting lives. Born congenitally blind in her right eye she was given the name Alexis Elizabeth Lucia Chase. “I’m very proud of my name,” she says explaining the origin. Alexis was the name of a doll her mother had as a girl, and it means protector of mankind. Elizabeth is a family name, and Lucia represents Saint Lucia, the patron saint of the blind. Her mother was a nurse and her father, who was the first to recognize she had a vision issue, had a degree in biology. She was very close with her parents who instilled in her a strong foundation in her Roman Catholic faith. While she was born in Connecticut, she spent most of her adult life in Georgia as a divorced mother who built a successful 27-year career in the prison corrections system. She worked her way up to warden and earned two PhDs, one in religious counseling and one in criminal justice and corrections. After her retirement she became an international advocate and consultant of gender and women’s rights issues that include vocational training, post-incarceration reintegration, and female prisoners with children. She has travelled as far as Afghanistan in her advocacy work, and she is also the proud nana to a cat named Nathan Edgar Chase. She’s done a lot, and much of what she’s accomplished, she’s done while living with cancer.
The first time she was diagnosed with cancer was in 1976. She was in the first trimester of a high-risk pregnancy when she was diagnosed with ovarian cancer. Her doctors thought it would be best to terminate the pregnancy, but she refused. She was determined to have the baby, her daughter, and as soon as she was born, Dr. Chase began treatment for her cancer, opting for an experimental drug that she says saved her life.
At the time, her parents, her desire to live for her daughter, and her strong faith gave her the support she needed. “They were right there with me,” she says of her parents who she is grateful to for her faith. “It’s my great equalizer. My rope of hope,” she says and adds that she can pull on her faith anytime and in any place. “You’ve got to believe in something greater than yourself because definitely we’re not it,” she says.
She’s had no recurrence of the ovarian cancer, but in 1996, during a regular wellness checkup, she was diagnosed with myeloproliferative neoplasms (MPNs), a group of blood cancers that affect the function of bone marrow and can cause a number of complications. In Dr. Chase’s case her MPNs includes iron deficiency, anemia, diseases of the blood and blood forming organs, and hypothyroidism. MPNs are chronic conditions that can transform into another blood cancer and can affect people at any age but are more common in older adults. MPNs are also progressive. Dr. Chase had no symptoms for the first four years after her diagnosis, and wondered if she’d been misdiagnosed, but in 2000 she says she just started to feel like something wasn’t right and that’s when her blood counts started to change. She began taking medication, but in 2020 it stopped working and her cancer team worked to find other medications and therapies to treat her.
MPNs are rare and she doesn’t know anyone else with the same diagnosis, but she says she has an incredible support network through her daughter, her friends that are like family, her church, and her cancer team. “They take great care of me,” she says, but she also takes great care of herself. In fact, she’s very meticulous about taking care of herself. She carefully takes her medications, and she makes herself a priority. She focuses a lot on her mental health and she stresses the importance of mental health for all cancer patients. She says she finds three ways to laugh at herself every day and she chooses six words every day that represent how she’s doing and to help her feel empowered. A recent example, “I feel surrounded by grace today”. Also, part of her self-care is taking the time to listen to calming and soothing sounds and inspirational messages and quotes.
She says it’s a blessing to have the cancer she has because she is able to handle it and it makes her take time to smell the roses. She’s handled it so well that during her career as a prison warden she never let on that she was sick. She managed to schedule her appointments around her work so no one would know. She didn’t want her illness to affect her career.
Always an empowered patient, she’s been known to walk out of a doctor’s office when a situation doesn’t feel right. “It’s important for people to feel like they are being heard and more importantly that they are being listened to.” She says “It’s also important to know what’s going on with your care. You know your body better than anybody.” Dr. Chase likes the Patient Empowerment Network (PEN) because of the resources it provides to help others feel empowered in their own care. “I found PEN and love that I can access it anytime,” she says. She feels it’s important for patients to take charge of their own care plans. “To be empowered you have to be open, to want to do it, and to accept where you are,” she says.Her recommendation to other patients is to read, and comprehend, everything they can about their illness. “If you don’t understand it, you need to have someone explain it to you,” she says and also recommends keeping a journal. “We have to have something tangible. We can’t remember everything.”
While she continues to accomplish a great deal while living with cancer, it’s not always easy. “The chronic cancer fatigue, it will get me. I fight it because I feel like once I give in it would overtake me,” she says. She does experience shortness of breath and plans her days around her energy level. “It slows me down, but I don’t let it stop me. I push myself because I know the next day or the next day I won’t be able to.” Along with continuing her consulting and advocacy work, Dr. Chase loves to travel and hopes to go to Turkey to see the Virgin Mary’s house. “You never know what God has laid out for you,” she says. “I’m still here. I’ve been symptomatic for 20 years and I’m still here.”
Jennifer Lessinger is a professional writer and editor who learned the value of patient empowerment during her struggle with a hard-to-diagnose and complex endocrine disorder.
What do metastatic breast cancer patients need to know about the latest research news? Dr. Megan Kruse shares highlights from the 2020 San Antonio Breast Cancer Symposium (SABCS), along with her advice for advocating for the right testing to help guide treatment options.
Dr. Megan Kruse is a Breast Medical Oncologist at the Cleveland Clinic. More about this expert here.
At this year’s San Antonio Breast Cancer Symposium, there were a few interesting presentations about the treatment of first-line metastatic triple-negative breast cancer that I think patients should be aware of.
Two of the presentations centered around trials that were presented in the past. Those reporting, patients reported outcomes from the IMpassion 130 study, which looked at chemotherapy for metastatic triple-negative disease plus the immunotherapy atezolizumab. And then, there was also an update on the results from the KEYNOTE-355 study, which was a study again of chemotherapy for metastatic triple-negative patients in combination with pembrolizumab, a different immunotherapy. And both of these studies showed that there was benefit for women in certain sub-groups of triple-negative breast cancer when looking at addition of immunotherapy.
And so, what I’d like to draw patients’ attention to with these presentations is that you have to be aware of if you fall into one of these categories so you know if you’re a candidate for the particular type of immunotherapy that can be added to chemotherapy. There are two different ways to test for if a patient is a candidate for immunotherapy and they are both tests that can be done on biopsies of metastatic or cancer recurrent sites in the body.
They can also be sent off of original breast cancer tumors. And what we now know is that for patients who do not have markers that suggest immune activation or where the immune system would be responsive to immunotherapy the addition of that extra therapy really does not help to improve cancer control over chemotherapy alone. And I think that’s a really important topic because everyone is very interested in immunotherapy, but it does have side effects of its own and it can actually be lasting side effects in terms of inflammation in organs like the liver, the colon, and the lungs.
And then, the third presentation that I’d like to bring up is the IPATunity study, which looked at the addition of a targeted therapy called ipatasertib to, again, chemotherapy for the first treatment of metastatic triple-negative disease.
And so, this is getting into an area of targeted therapy for metastatic triple-negative disease. And again, only looks at patients that have a particular marker that suggests sensitivity to this drug. And those are certain genetic markers, predominately changes in a DNA marker called PIK3CA. In this study, we actually found that there was no benefit for the targeted therapy added to chemotherapy for patients that had that genetic mutation, which was different than what was seen in earlier studies of the same combination. So, I think there’s more work to be done and it’s probably too early to say that this targeted therapy will not be used in treatment of metastatic breast cancer.
But what all of these research studies show together is that metastatic triple-negative cancer is not really just one disease. It’s very clear that within that one name, there are multiple different patient types and tumor types that need to be cared for differently.
And so, again, I think the theme from these abstracts and these research presentations is that we have to look into the right therapy for the right patient at the right time, which largely involved DNA-based testing.
So, when patients are thinking about their treatment options and how to best help with their providers about what treatment options exist for them, I think it’s important to recognize the type of testing that may be advantageous in your cancer type.
And so, for all metastatic breast cancer patients, we really recommend that they’ve had genetic testing to look for DNA changes like BRCA mutations that will lead to treatment options. For metastatic triple-negative disease, it’s important to make sure that you’re providers are testing for PDL1, which would make you a candidate for immunotherapy. And then, the more we learn about clinical trials, the more we have options for patients that have had drug-based DNA or genome-based testing. So, that’s an important term for patients to become familiar with is genomic testing.
And I think when you bring that up with your providers, they’ll know what you’re talking about and they’ll know that what you’re potentially interested in is new targeted therapy for the cancer that may either come in combination with chemotherapy or as a standalone treatment option. If you don’t have those options that are available, and FDA approved basis for regular routine patient care, there is always the option of clinical trials.
And so, if that is something that you’re interested in, genomic testing will often open the way. So, I think as you’re writing notes when you’re talking to your providers, you might wanna jot down whether or not you’ve had genetic testing and whether or not you’ve had genomic testing in the past, as both of those things will help potentially address all of your treatment options.
I’ve very hopeful about the research that is going to lead to new developments for breast cancer treatment in the next few years.
I think what we’ve seen both at this San Antonio Breast Cancer Symposium as well as other conferences in the recent past has been a lot of focus on finding the right treatment for the right patient at the right time. And so, patients seem to be very interested in finding out this information. They often come to clinic armed with the most recent data, which allows their providers to have really informed discussions about what the best treatment might be. And to talk about if the new treatments are not great right now, what treatments might look like in the future.
I think the other thing that’s encouraging about the research that we’ve seen presented at this conference is that some of these trials are very, very large. For example, the RxPONDER trial was a trial of over 9,000 patients. And I really think that’s amazing to get that many patients interested in research that may not directly impact their patient care but will impact the care of others moving forward.
It’s just a sign that our breast cancer patients are empowered, and they want to make a difference in the scientific community as a whole.
https://powerfulpatients.org/wp-content/uploads/Metastatic-BC-Research_-How-Can-You-Advocate-for-the-Latest-Treatment-2.png600600GIna Craighttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngGIna Craig2020-12-18 10:33:072025-04-14 14:31:25Metastatic BC Research: How Can You Advocate for the Latest Treatment?
Breast cancer expert Dr. Julie Gralow explains how you can advocate for the best metastatic breast cancer care, through speaking up, utilizing care team members and taking key steps to achieving better care.
Dr. Julie Gralow is the Jill Bennett Endowed Professor of Breast Medical Oncology at the University of Washington, Fred Hutchinson Cancer Research Center, and the Seattle Cancer Care Alliance. More about this expert here.
For patients who may be hesitant to speak out for themselves and advocate for their own care and treatment, what advice do you have?
Dr. Gralow:
You have a whole team who’s behind you, and I’m the MD on the team, but I’ve got a nurse practitioner, and a nurse, and a scheduler, and a social worker, and a nutritionist, and a physical therapy team, and financial counselors. I’ve got a whole team who works with me. And so, a patient might be hesitant to speak up during the actual appointment with their physician. It’s a short amount of time. I would recommend come into it with written-down questions because things go fast. You don’t get a lot of time with your doctor.
Things go fast, but don’t come in with 25 questions, either. Pick your top few that you want to get taken care of this visit because if you come in with 25 or 30, you’re going to lose the answers to most of them. Maybe bring somebody with you who’s an advocate and a listener for you who could be taking notes, so you can process and you don’t have to write it down, or ask if you can record it. It’s really important if you’re newly diagnosed or maybe there’s a progression and you’re going on a new treatment. That’s okay too.
But, I would also say you have a whole team behind you, so sometimes, if you don’t have time or if you’re hesitant to speak up in your doctor’s visit, you can ask the nurse, or maybe you can ask the social worker for help, even. See if there’s support groups around.
Interestingly, we’ve got a peer-to-peer network where patients can request to talk to somebody else who’s matched to them by some tumor features, and their stage, and things like that. Maybe finding somebody else who’s gone through something similar, and somebody independent to talk to instead of relying on your family.
It can also be really helpful to talk to a therapist or a psychologist about your fears, and sometimes, you want to be strong for your family, strong for your children and all, but you need a safe space with somebody that you can just express your fears and your anger if that’s what’s going on, or your depression or anxiety to while you’re trying to hold a strong face for others in your family. So, I would encourage patients to look at who is the whole team and talk to the other members of the team as well, and sometimes, they can help advocate.
Also, find somebody who might be able to come to your appointments with you, somebody who will help you advocate or remind you – “Didn’t you want to ask this question?” – or be another set of ears that you can process it with afterwards.
Katherine:
Dr. Gralow, we’ve covered a lot of useful information today for patients. Thank you so much for joining us.
Dr. Gralow:
Thank you, Katherine.
Katherine:
And, thank you to all of our partners. To learn more about breast cancer and to access tools to help you become a proactive patient, visit powerfulpatients.org. I’m Katherine Banwell.
https://powerfulpatients.org/wp-content/uploads/How-Can-You-Advocate-for-the-Best-Breast-Cancer-Care_-1-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-11-04 09:33:162025-04-14 14:31:26How Can You Advocate for the Best Breast Cancer Care?
As metastatic breast cancer testing approaches continue to expand, new and promising treatments have emerged. Dr. Lisa Flaum shares information on recently approved treatment options and the role of genetic markers in accessing targeted therapy.
Dr. Lisa Flaum is a Medical Oncologist at the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. Learn more here.
There are a lot of new and promising treatments for metastatic breast cancer. So, the treatments in general and the novel treatments and studies really vary based on the subset of metastatic breast cancer. So, when we’re making our treatment decisions, a lot of it is defined by those markers. So, if someone has a tumor that is hormone receptor, estrogen and progesterone receptor positive, and HER2-negative, the mainstay of treatment is typically drugs that target estrogen and often partnering drugs that target estrogen with other more novel or newer treatments.
So, just in the last five plus years, there have been a number of new drugs and even new drug categories that we didn’t have previously. So, for that population of the estrogen receptor positive tumors, the biggest breakthrough over the last number of years has been a class of drugs called CDK4/6 inhibitors. So, that includes drugs like Ibrance, Kisqali, Verzenio. And they’ve emerged as a very important and effective and often a recommendation for our first-line treatment for these patients combined with anti-estrogen therapies that have vastly improved outcomes for patients. So, a much higher percentage of patients respond to these drugs, the duration of the responses has extended quite a bit. And importantly, patients tend to tolerate this drug class really, really well.
So, for many patients starting out with that diagnosis, this type of drug class is going to be part of the discussion. Even in the last year, another drug category has emerged with approval of a new drug called alpelisib, which is something called at PI3 kinase inhibitor. So, again, back to defining the options based on the molecular profile of the tumor. So, this newer oral drug also partnered with anti-estrogen therapy, has been an important breakthrough for the treatment of patients who harbor this specific molecular abnormality. So, important to define whether that’s an option by some of these molecular testing.
There’s also newer drugs and studies of newer drugs that affect the estrogen receptor in different ways than some of our traditional medications.
And this is an ongoing area of significant research. So, that’s the estrogen receptor positive tumors.
For patients who have HER2-positive tumors, these are tumors that tend to be more aggressive, that tend to require more aggressive upfront treatment, which usually involves drugs that specifically target HER2. So, again, defining what’s driving the tumor and hopefully having drugs available that can target that specific abnormality. So, HER2 targeted drugs have evolved quite a bit over the last couple of decades.
Initially, we just had a drug called Herceptin and then a drug called Perjeta or pertuzumab was developed. Then more recently a drug called Kadcyla. And then even in just the last six to 10 months, two new drugs that target that HER2 protein. One of them is called tucatinib, the other one is called Enhertu. They’re not necessarily appropriate for the first line of treatment, but really sort of expands our toolbox in terms of how we treat these types of tumors. And these are developments that have occurred, for one of the drugs, just in the last six months, and the other within the last year. So, a lot of progress.
And then for the third subset of tumors, which are the triple-negative tumors, those are the ones that do not over-express estrogen, do not have estrogen or progesterone receptors, and don’t overexpressed HER2. This has been historically an area of unmet need. So, tumors where we can’t use anti-estrogen therapies, we can’t use HER2 targeted drugs. And so, the main stay has always been chemotherapy. And even for this subset, we’ve had progress.
So, one of the drug classes that’s been approved in the last couple years for triple-negative breast cancers is immunotherapy. So, immunotherapy has gotten a lot of press. It’s been really breakthrough treatment for a lot of different cancers, has lagged behind to some degree in breast cancer, but has become now one of the early treatment options for people with metastatic disease, specifically those that harbor a molecular marker, an immune marker, something called PD-L1. So, another example of the tumor’s biology dictating potentially one of the treatment options.
There have been other drugs that have been approved for triple-negative breast cancers in women who have BRCA mutation, so who have germline genetic predisposition to breast cancer. And that opens another array of treatment tools that have been approved in the last few years. And then more recently, just over the last six months, another drug that’s been approved for triple-negative breast cancer, which is a drug called sacituzumab, again, not first treatment, but something that defines potentially future lines of treatment. So, big picture, there has been a lot of progress that increasingly alters our treatment tools for patients and allows us to have sequential treatments that can be effective if their given treatment is no longer effective.
https://powerfulpatients.org/wp-content/uploads/Metastatic-Breast-Cancer-Treatment-and-Research-News-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-10-22 12:21:112025-04-14 14:37:37Metastatic Breast Cancer Treatment and Research News
For each metastatic breast cancer patient, there are several variables to consider to access the best treatment path. Dr. Lisa Flaum explains key factors to consider, and discusses how the risks and benefits are weighed when making treatment decisions for an individual patient.
Dr. Lisa Flaum is a Medical Oncologist at the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. Learn more here.
So, when we’re determining a treatment approach, there are a number of variables. So, to some degree, based on a patient’s individual characteristics, their age, their other health issues, may guide what treatments are available or indicated or even desirable from a patient’s standpoint. To some degree, the locations and extent of disease are important. So, if someone has cancer and that’s causing a particular symptom, with bony sites being a particular example, there may be a role for something targeted; Something like radiation, and in rare cases, surgery to target a specific symptomatic or worrisome spot of metastatic cancer.
In general, the mainstay of treatment for metastatic breast cancer is what we call systemic treatment or medical treatment, treatment that’s going to go everywhere and treat the cancer wherever it is. In some situations, we may be deciding between more or less aggressive treatment, and the locations and sites of disease may be important in determining that. If someone has extensive disease, for instance in a vital organ like the lung, the liver, the brain, we may start with something more versus less aggressive to try to get it better under control quickly. Whereas people with more limited metastatic disease may be able to start with something less aggressive.
And then beyond that, a lot of the decision-making is based on those molecular markers that I alluded to, which are defined by the hormone receptor status. So, whether the tumor expresses those estrogen and progesterone receptors, and whether the tumor over-expresses HER2. And then to a lesser degree, based on other markers that may be defined by additional tests.
So, every treatment discussion we have is a two-way street. So, our job is to present the data, present options, present recommendations. And often, we have an opinion on where we would fall and if there are a number of different options. But to me, it’s a collaborative discussion. And if there are options, it’s weighing what potential benefit do we get from a single option or from adding something to that particular option versus what are the downsides? And some of it is discussion about logistics. Do we do something IV versus oral? Is there a particular side effect that we’re hoping to avoid, such as hair loss? Which of course, we’re trying to avoid. Some treatments may have a higher likelihood of working, but a higher likelihood of causing hair loss. That may factor into our decision.
So, whether it’s the first decision point when we’re deciding on preliminary therapy or future decision points as we go through this journey, there is always a discussion about this is where we are, these are what our options are. Here’s how we’re going to weigh the pros and cons. And then it comes back to a collaborative decision about how we weigh the risks and rewards and where we’re going with an individual patient.
So, clinical trials are always part of at least the conversation, so they’re always a consideration at each step of our discussion. So, from a preliminary treatment standpoint, we’re always going to go through here are our standard options. Here’s, again, what we think is most appropriate. And if there’s a clinical trial that’s appropriate in that scenario, we’ll lay that out there as an option. So, a clinical trial is always worth discussing. It’s always worth asking that your doctor, “Is a clinical trial appropriate for me at this point?” But it’s not always the right recommendation.
So, there are a lot of scenarios, especially at the beginning of treatment for metastatic disease where we have so many options, and so many new and novel treatment options and drugs that have been approved fairly recently that have defined the standard of care, that the standard is going to be often what we recommend. And a clinical trial may be something that we would use if that treatment fails to work or at some future point down the line. And at other points in time, we have very good, appropriate clinical trials that could be indicated at any step along the way. So, it’s worth the discussion. Whether it’s the recommendation or not depends on the circumstances, it depends on the time. What we have today was very different than what we might’ve had available six months ago and six months from now. But clinical trials are out there, and if the location that a patient is going doesn’t have access to clinical trials, it’s always reasonable to ask too, “Should I be going somewhere else to see if a clinical trial is appropriate?”
https://powerfulpatients.org/wp-content/uploads/Metastatic-Breast-Cancer-Treatment-Decisions_-Which-Path-is-Best-for-You_-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-10-22 12:13:512025-04-14 14:37:37Metastatic Breast Cancer Treatment Decisions: Which Path is Best for You?
Following a metastatic breast cancer diagnosis, what tests are essential? Dr. Lisa Flaum reviews the role of key tests, and the impact of molecular (genetic) test results on treatment decisions.
Dr. Lisa Flaum is a Medical Oncologist at the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. Learn more here.
When someone has either a diagnosis or a suspected diagnosis of metastatic cancer, meaning a diagnosis of cancer that has spread somewhere outside of the breast. And the most important initial step is establishing a tissue diagnosis. So, we could have our suspicions based on imaging, based on symptoms, but the most important thing is to confirm it. And usually that confirmation involves some type of tissue biopsy. So, collecting cells, examining them under the microscope, making sure that the diagnosis in fact, is cancer. Making sure that the cancer has spread from the breast, which is something that is definable under the microscope for the most part. And then evaluating various molecular markers within the tumor itself that are critical to guiding treatment.
So, in addition to the tissue diagnosis, the other important first step is what we call cancer staging. So, establishing the extent of the tumor within the body, which typically involves some type of scans, which may be variable depending on the situation or depending on the physician often could be a CT scan and a bone scan, maybe a PET scan. There may be an MRI.
So, a number of different tests that help us establish where the tumor is at baseline, so we can better understand the anatomy, but also to follow down the road to establish whether any given treatment is working. There are also maybe discussions of other types of molecular testing beyond what we determined in terms of the traditional biologic markers. You might hear the terms next generation sequencing tests like Foundation, Guardant, Tempus, which better define the cancer’s biology, which increasingly is becoming useful in terms of targeting treatment to someone’s specific cancer.
So, the molecular tests are looking at a few different things. So, first and foremost from a breast cancer standpoint, the most important basic molecular markers are what we consider to be the four main receptors, which is the estrogen and progesterone receptor, which dictates whether a given tumor is driven by estrogen and importantly dictates whether anti-estrogen therapy is going to be an appropriate component of the treatment. The other basic marker is called HER2, which is a protein that’s over-expressed.
In about 20% of breast cancer patient cells, and it’s also very critical in terms of guiding treatment. For specific types of breast cancer, once we know those preliminary molecular markers, then there’s an array of other types of anomalies within the tumor itself that could help to guide specific treatment. So, a couple of examples, and I can talk about that when you talk about treatment. If someone has a genetic predisposition to breast cancer with a BRCA mutation, there’s a specific treatment that might be appropriate. More recently, there’s another abnormality that can be detected by these tests called a PI3-Kinase mutation that identifies a population of patients who could be appropriate for another type of targeted therapy. So, for an individual, knowing what their particular profile is, whether or not those treatments are going to be indicated right at the beginning of treatment or maybe something that we use down the road. Inevitably, they’re going to help us understand what our tools are when we’re helping to make those decisions.
https://powerfulpatients.org/wp-content/uploads/Essential-Testing-Following-A-Metastatic-Breast-Cancer-Diagnosis-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-10-22 12:05:592025-04-14 14:32:41Essential Testing Following A Metastatic Breast Cancer Diagnosis
What should metastatic breast cancer patients know about emerging approaches to treatment and care? Dr. Julie Gralow reviews developments in metastatic breast cancer research, including advances in genetics, subsetting disease and personalized medicine.
Dr. Julie Gralow is the Jill Bennett Endowed Professor of Breast Medical Oncology at the University of Washington, Fred Hutchinson Cancer Research Center, and the Seattle Cancer Care Alliance. More about this expert here.
There have been so many advances in breast cancer research. What are you excited about in research right now?
Dr. Gralow:
Well, every single drug that’s been approved, every single new regimen that’s been approved in breast cancer is the direct result of clinical trials, and this is a major part of my career, is to help patients get access to clinical trials and run important clinical trials that could lead to new discoveries – is this regimen better? What’s the toxicity?
Because until we have a cure for breast cancer, we need to do better, and we need to research better treatment options. So, doing trials, having access to clinical trials where you can participate, help move the science forward is key.
I think where we’re moving with breast cancer is the more we’re understanding the patient and the tumor, the more we’re realizing every single breast cancer is different, actually, and whereas when I started my training 20-plus years ago, breast cancer was breast cancer – we weren’t even using HER2 yet, we were just learning how to use estrogen receptor, and we kind of treated everything the same – now, we’re subsetting, and subsetting, and subsetting. Even in triple negative breast cancer now, which is about 18-20% of breast cancer, we’re subsetting.
Does that triple negative breast cancer have PD-L1, which is associated with being able to get immunotherapy drugs? Does it express androgen receptor? Because sometimes, even a breast cancer that doesn’t have estrogen or progesterone receptor can express the androgen receptor, like prostate cancer, and we can use some prostate cancer drugs. So, even triple negative breast cancer we’re subsetting and subsetting, and could that triple negative breast cancer be associated with a BRCA1 or 2 mutation, and then we can use the PARP inhibitors?
So, I’m actually really excited about that we’re learning more and more, and subsetting, and not treating breast cancer as one size fits all, and if we can better tailor the treatments to the patient and the tumor, that we are going to get to the point where I can tell my patients yes, we can get cures in metastatic breast cancer.
https://powerfulpatients.org/wp-content/uploads/What-Could-Advances-in-Breast-Cancer-Research-Mean-for-You_-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-10-20 15:16:232025-04-14 14:31:27What Could Advances in Breast Cancer Research Mean for You?
Breast cancer expert Dr. Julie Gralow discusses the role of genetic testing in metastatic breast cancer care, reviewing the impact of inherited–and acquired–genetic mutations on treatment options.
Dr. Julie Gralow is the Jill Bennett Endowed Professor of Breast Medical Oncology at the University of Washington, Fred Hutchinson Cancer Research Center, and the Seattle Cancer Care Alliance. More about this expert here.
All right. Dr. Gralow, when you meet with patients, what are some of the more common misconceptions that you hear related to diagnosis?
Dr. Gralow:
Well, I think people do confuse – especially at an early diagnosis – that the metastases, the travel to the local lymph nodes, is not the same as a metastatic breast cancer, so we spend some time talking about how it’s still curable and not considered a distant metastasis if the lymph nodes are in the armpit or up above the collarbone, and so, that’s something that we spend some time talking about.
This whole term of “metastatic recurrence” – unfortunately, when you start looking online and get your information from Dr. Google, you read right away that it’s no longer curable, and in 2020, yes, that’s true. That’s probably the most specific statement that we can make. We are not going with curative intent, which means we treat for a defined amount of time, and then all the disease goes away, and we stop treatment, and then you go on with your life, and it never comes back. That would be cure.
But, I think it’s really important to point out that much of metastatic breast cancer can be highly treatable, and what we hope to do – and certainly, at least a subset of metastatic breast cancer – we want to convert it more to what we would call a chronic disease, and so, think of it more like hypertension, high blood pressure, or diabetes. These are diseases that we generally don’t cure with treatment, but that we can control with drug therapy, which sometimes has to be adjusted, and if we don’t control it, we can get some bad complications.
So, that’s not all metastatic breast cancer, unfortunately – we can’t convert all of it to something where we can use a therapy for a long time that keeps it in check and where you have a pretty good quality of life – but we’re hoping that more and more, we’re getting targeted therapies and more specific treatments to patients so that we can convert more patients to a more chronic kind of situation.
Katherine:
Many people are confused about genetic testing. They often think that it relates to ancestry or physical traits like hair and eye color. What’s the role of genetic testing in breast cancer?
Dr. Gralow:
Well, you can do genetic testing of the patient’s inheritance, which is how most people think of genetic testing, and that’s actually really important and increasingly important in metastatic breast cancer to do your own inheritance. Have you inherited a gene that was associated with how your cancer developed? Because now, we actually have a class of drugs called PARP inhibitors that are approved for tumors that have a BRCA1 or BRCA2 mutation with them. Most of those mutations were inherited, but not all. Sometimes they can develop as well.
So, now, when my patient – if she didn’t previously have genetic testing for an inherited risk for breast cancer either coming from mom or dad’s side of the family, a lot of people do have that up front, especially if they’re younger at diagnosis or they have a lot of family members with breast cancer. If she didn’t have that genetic testing done previously, at the time of the metastatic occurrence, I’m going to recommend that that be done because knowing if the cancer is associated with one of these DNA repair genes – BRCA1, BRCA2, some other genes – we have a new treatment option, which is an oral pill that actually is highly effective if the tumor has a mutation in one of these.
But, we can also – so, that’s genetic testing of the patient’s own DNA, but we can also do what we call genetic testing – or genomic testing, if you will – of the genes of the cancer. What were the changes in the DNA at the gene level that caused a normal breast cell over time to develop into a cancer cell that’s now growing without responding to our body’s checks and balances? So, what were those mutations, deletions, or amplifications in the tumor itself?
So, we’ve got the patient’s genetics, we’ve got the tumor’s genetics, and both of those come into play when we’re making our best treatment recommendations and trying to understand what the right approach is.
Katherine:
How is testing administered?
Dr. Gralow:
So, for our inherited testing, those gene changes can be found in every cell in the body, so we can do that from a simple blood test where we just look at the blood cells. We can actually do it with our sputum and with a cheek swab, even. You can get enough of the DNA from the inside of the mouth to do that.
For a tumor’s genetics, we need some of the tumor, so that’s either done with a biopsy into the metastatic site or, as I mentioned before, increasingly, we’re exploring the potential for a liquid biopsy – so, drawing some blood and then trying to find pieces of the tumor that are shed into the blood.
https://powerfulpatients.org/wp-content/uploads/What-is-the-Role-of-Genetic-Testing-in-Breast-Cancer_-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-10-20 14:53:032025-04-14 14:32:41What Is the Role of Genetic Testing in Breast Cancer?
Dr. Julie Gralow discusses factors that affect metastatic breast cancer treatment decisions, including the cancer’s biology, the overall health of the patient, and treatment side effects.
Dr. Julie Gralow is the Jill Bennett Endowed Professor of Breast Medical Oncology at the University of Washington, Fred Hutchinson Cancer Research Center, and the Seattle Cancer Care Alliance. More about this expert here.
Well, Dr. Gralow, what other factors should be taken into consideration with a treatment route?
Dr. Gralow:
I always like to think of the treatment decision as relying on three factors, and the first relates to the tumor factor, the cancer factor.
So, we talked a lot about the biology, the estrogen receptor, the HER2, the genomic profiling. So, that’s critical, but there are two other components that we need to really strongly consider when trying to devise the right treatment regimen. One of those is patient factors, and not just the patient’s genetics, but are they pre- or post-menopausal?
What is the age? Where are they in life? Are they young with young kids? Are they working, and is that an important priority for them? Are they older and with grandchildren, and they don’t need to work? What is it that would be critical? What are the patient’s priorities here, and what are their fears, what are the things they would – what would be really important as we plan a regimen? And so, the patient factors which would be patient priorities and where they are in life right now.
And then, there’s factors related to the treatment itself, which would include not just how effective it is, but – and, this is really important when trying to decide regimens – what are the side effects of a regimen? For some patients, hair loss is a big deal, and we can put it off as long as possible – maybe choosing the first couple regimens don’t cause hair loss sometimes.
But, for other people, that doesn’t matter to them. For some, we have oral – some regimens, and that could keep them out of the infusion room, and others actually – I’ve had patients who actually like coming into the infusion room regularly so that they can review the side effects and get the reassurance provided by it. So, we’ve got different route of administration of the drugs, different side effects. If you already had, for example, a neuropathy – a numbness/tingling of fingers and toes – from treatment that you might have gotten for early-stage disease, we’d probably want to avoid drugs where that’s their major side effect in the metastatic setting and that would increase that even further.
We’ve got some drugs that cause a lot of toxicity to our GI system – nausea, vomiting, or diarrhea – and other drugs that don’t. And so, understanding what symptoms the patient already has and actually tailoring the treatment based on some of the side effects of the drug could also be done, as well as how they’re administered. So, again, patient factors, tumor factors, and then, factors related to the treatment itself all come into play when we make decisions.
Katherine:
There have been so many advances in breast cancer research. What are you excited about in research right now?
Dr. Gralow:
Well, every single drug that’s been approved, every single new regimen that’s been approved in breast cancer is the direct result of clinical trials, and this is a major part of my career, is to help patients get access to clinical trials and run important clinical trials that could lead to new discoveries – is this regimen better? What’s the toxicity?
Because until we have a cure for breast cancer, we need to do better, and we need to research better treatment options. So, doing trials, having access to clinical trials where you can participate, help move the science forward is key.
I think where we’re moving with breast cancer is the more we’re understanding the patient and the tumor, the more we’re realizing every single breast cancer is different, actually, and whereas when I started my training 20-plus years ago, breast cancer was breast cancer – we weren’t even using HER2 yet, we were just learning how to use estrogen receptor, and we kind of treated everything the same – now, we’re subsetting, and subsetting, and subsetting. Even in triple negative breast cancer now, which is about 18-20% of breast cancer, we’re subsetting.
Does that triple negative breast cancer have PD-L1, which is associated with being able to get immunotherapy drugs? Does it express androgen receptor? Because sometimes, even a breast cancer that doesn’t have estrogen or progesterone receptor can express the androgen receptor, like prostate cancer, and we can use some prostate cancer drugs. So, even triple negative breast cancer we’re subsetting and subsetting, and could that triple negative breast cancer be associated with a BRCA1 or 2 mutation, and then we can use the PARP inhibitors?
So, I’m actually really excited about that we’re learning more and more, and subsetting, and not treating breast cancer as one size fits all, and if we can better tailor the treatments to the patient and the tumor, that we are going to get to the point where I can tell my patients yes, we can get cures in metastatic breast cancer.
https://powerfulpatients.org/wp-content/uploads/Factors-that-Guide-a-Metastatic-Breast-Cancer-Treatment-Decision-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-10-20 14:45:212025-04-14 14:31:29Factors That Guide a Metastatic Breast Cancer Treatment Decision
Dr. Julie Gralow explains the impact of genetic mutations on metastatic breast cancer progression and prognosis, including how DNA repair genes function.
Dr. Julie Gralow is the Jill Bennett Endowed Professor of Breast Medical Oncology at the University of Washington, Fred Hutchinson Cancer Research Center, and the Seattle Cancer Care Alliance. More about this expert here.
You’ve been referring to a number of terms. Patients may have heard the BRCA or “braca” that relate to breast cancer in genetics. Would you give us an overview of common mutations in breast cancer?
Dr. Gralow:
So, of the mutations that we can inherit, the first two that were discovered were BRCA1 and BRCA2, and for all breast cancer – not just metastatic, but all breast cancer – we think that maybe 5-10% of breast cancer is the direct result of the inheritance of a strong gene that gives you a high – not 100%, but a high likelihood of developing breast cancer.
So, for BRCA1 and 2, these two genes are associated predominantly with breast and ovarian cancer, and if you live out your normal lifespan, you could have up to a 75-80% chance of getting one of those two cancers, and breast cancer being more common. Also, some association with some other cancers including, interestingly, prostate cancer, which we’re learning more about.
So, BRCA1 and 2 are the most common, and they tend to be found – because they have such a high association with the risk of breast and ovarian cancer, they tend to be found in families that have a lot of other breast cancers, and also breast and ovarian cancer presenting at a younger age. So, you’ve inherited a gene that leads to a high predisposition, and the cancer occurs earlier.
So, whereas the average age of diagnosis of breast cancer in the U.S. is 61-62 most commonly, in a patient who’s inherited a BRCA1 or 2 gene mutation, it’s closer to 40-42 – so, a lot younger. And then, there are a variety of other genes that can be inherited that are either much less common or have a weaker link. So, for example, there are genes called CHEK2 or PALB2, ATM, P53 – I just mention that because some of the listeners will potentially have one of those mutations or have heard it. Those are either rarer or they’re associated with a weaker chance of getting cancer.
So, those might be more commonly found in a family that doesn’t have a lot of cancer in it because a carrier – the mother or the father – and their other relatives would have maybe only a 30% chance of getting breast cancer in some cases. So, there would be a lot of carriers who don’t get cancer.
So, as I mentioned earlier, I think it’s really important – especially right now in metastatic breast cancer – that pretty much everybody, even if you didn’t have a strong family history, even if you weren’t diagnosed at a young age, get tested because if we find one of these inherited mutations, we now have some additional treatment options, especially right now, approved for BRCA1 or 2, but clinical trials going on for many of these other genes.
Katherine:
How do these mutations affect disease progression and prognosis?
Dr. Gralow:
So, most of the genes I’ve mentioned – in their normal state, they’re critical, actually. They’re called DNA repair genes, and their job in our life is when we accidentally make a mistake when we’re replicating our DNA and two cells are dividing, if there’s a mistake in the DNA, they go in and repair it. And, we’ve got all kinds of mechanisms to try to prevent mutations from happening as cells divide, and BRCA1 and 2 are a key part of that, and so, they’re fixing it.
So, if you inherit a mutation in one of those genes, you still have some ability to repair any routine mistakes that are being made, but over time, you have less ability, and then, if you get a cancer that has a deficiency in BRCA1 or 2, those cancers can be more sensitive to certain kinds of chemotherapy that affects DNA repair.
So, for example a class of chemotherapy agents called the platinum drugs – carboplatin and cisplatin – may be more effective in BRCA1- or 2-mutated cancers, also more generally in triple negative breast cancer because they can be more similar to BRCA1-mutated cancers in a lot of ways.
So, to go back to your original question, once a cancer has developed in a patient who has a BRCA1 or 2 mutation, we treat that cancer for what it is. So, it might have developed estrogen – have estrogen receptor on the surface or HER2, so we treat it as the subtype that developed, and actually, the chance of cure is just the same for BRCA1-associated breast cancer as it would be for one that doesn’t have a BRCA.
But, the chance of getting a second breast cancer – a totally new breast cancer – would be higher unless you chose to remove both of your breasts and the bulk of your breast tissue. So, decisions like surgery – if you had a known BRCA1 mutation, we’d treat the cancer you have now aggressively and for cure, but when you talk about your surgery options, we’d say doing more aggressive surgery, like removing both of your breasts – that’s not going to improve your chance of surviving the cancer you have now, but it will markedly reduce the chance of getting a second breast cancer.
So, you could consider that as an option for surgery – not to improve your chance of this cancer, but to reduce the chance of another breast cancer. So, your surgery decisions might be impacted by knowing your BRCA1 or 2 mutation. And then, clearly, if you had metastatic breast cancer, knowing if you had the option of a PARP inhibitor, one of the drugs in that class could be – you could have a different treatment option for drug therapy.
https://powerfulpatients.org/wp-content/uploads/How-Genetic-Mutations-Affect-Metastatic-Breast-Cancer-Prognosis-and-Treatment-1.png600600Kara Rayburnhttps://powerfulpatients.org/wp-content/uploads/New-Logo-300x126.pngKara Rayburn2020-10-20 14:37:372025-04-14 14:32:42How Genetic Mutations Affect Metastatic Breast Cancer Prognosis and Treatment
