How Does Biomarker Testing Impact Ovarian Cancer Screening and Detection?

What role does biomarker testing play in ovarian cancer detection? Dr. Nita Karnik Lee reviews genetic mutations related to ovarian cancer and discusses key steps women with a family history of the disease should consider. 

Dr. Nita Karnik Lee is a Gynecologic Oncologist at The University of Chicago Medicine. Learn more about Dr. Lee.

See More from DETECT Ovarian Cancer

Related Resources:

How Is Ovarian Cancer Detected?

How Is Ovarian Cancer Detected?

What Are the Symptoms of Ovarian Cancer?

What Are the Symptoms of Ovarian Cancer?

Patient Empowerment | Advice From an Ovarian Cancer Expert

Patient Empowerment | Advice From an Ovarian Cancer Expert


Transcript:

Katherine Banwell:  

What is the role of genetic and biomarker testing as screening tools? 

Dr. Nita Karnik Lee:  

Genetic testing is very important. When we get, for example, and I’ll kind of back up a little bit to say if somebody gets diagnosed with ovarian cancer, that is actually everyone who has a diagnosis of ovarian, fallopian tube, or peritoneal, because those are all sort of the same cancer, should get genetic testing to see if there’s a hereditary predisposition in their genetics that are passed on.  

That’s called germline testing. And those patients, and 20 percent of them, may actually have a hereditary condition that could be passed on. Then that’s where you can see how important it is. If I have somebody, and her children now know that the person has the BRCA gene, for example, then it’s really important for her children, men and women, to get screened, because then they may be able to do preventive measures, such as preventive surgery, preventive medications, or more frequent screening, to be able to prevent cancer from happening. 

Katherine Banwell:  

Okay. What genetic mutations are associated with ovarian cancer? 

Dr. Nita Karnik Lee:  

The ones that are most common that you hear about are something called BRCA, or B-R-C-A, 1 and 2. Those make up the majority of those mutations. There are some other less common ones such as Lynch syndrome, which is more associated with colon and endometrial cancer but can have about 10 percent to 12 percent of patients related to ovarian cancer as well.   

Nowadays, when we do genetic testing, we do a panel, so there are like 35 genes that are tested. There are a whole lot of different genes that can have an association with ovarian cancer, but the BRCA genes are the ones that most people hear about.   

Katherine Banwell:  

Should women with a family history of ovarian cancer take extra precautions? 

Dr. Nita Karnik Lee:  

That’s a very good question. So, if you have a family history, it’s probably important to talk to your doctor and to maybe even see somebody in cancer genetics who can draw out a family tree for you to see how high is this risk? If people have an ovarian cancer patient, one – or a breast cancer patient – some of it also matters what was the age that that patient got diagnosed. Some genetic mutation syndromes, actually the patient gets diagnosed much younger than average.  

The average age for ovarian cancer is about 60. Some patients will get it. For some genetic mutations, it’s still about that range. So, I think it’s important because even if you don’t have a genetic mutation, having a family member with ovarian cancer slightly increases your risk. 

Knowing those symptoms, knowing that your history will help your doctor dictate how quickly are they thinking about something else is really important, ultrasound, but we know that ultrasound is not perfect. 

How Is Ovarian Cancer Detected?

Dr. Nita Karnik Lee discusses how ovarian cancer is diagnosed, shares challenges in screening tests and procedures, and reviews ongoing research in the field. Dr. Lee also shares key questions to ask one’s healthcare team about ovarian cancer detection.

Dr. Nita Karnik Lee is a Gynecologic Oncologist at The University of Chicago Medicine. Learn more about Dr. Lee.

See More from DETECT Ovarian Cancer

Related Resources:

How Does Biomarker Testing Impact Ovarian Cancer Screening and Detection?

How Does Biomarker Testing Impact Ovarian Cancer Screening and Detection?

What Are the Symptoms of Ovarian Cancer?

What Are the Symptoms of Ovarian Cancer?

Patient Empowerment | Advice From an Ovarian Cancer Expert

Patient Empowerment | Advice From an Ovarian Cancer Expert


Transcript:

Katherine Banwell:  

Dr. Lee, what are the screening tests and procedures to detect ovarian cancer? 

Dr. Nita Karnik Lee:  

So, one of the important things to realize is that we do not actually have a screening test for ovarian cancer. That’s really important for the general public who maybe is at average risk. Patients who have a strong family history or a genetic, hereditary condition, sometimes we do use ultrasound and CA125, but that’s not considered a screening test for average-risk patients. We’re very limited in that sense for ovarian cancer. There’s a lot of research that’s being done about this.  

Katherine Banwell:  

Have there been advances in screening or screening technology that patients should know about? 

Dr. Nita Karnik Lee:  

I think the issue with screening and ovarian cancer is because we have not had any, and there have been really large studies that have been done both in the U.S. and in Europe, trying to see does ultrasound work every six months. Does CA125 and ultrasound work?

There’s some combination of blood tests that have started to become a little bit more researched in terms of going further along, but there’s really nothing that’s the perfect answer. One of the really important things that we talk about is knowing family history to see if there’s something that can be done to help patients who have a family history.  

And then also being really aware of subtle symptoms of ovarian cancer that can trigger you going to your doctor and then really pushing and advocating for yourself and your family member to get a workup done, which can often include an exam, an ultrasound, and maybe even something like a CAT scan or CT scan if any of the symptoms are a little more worrisome.  

Katherine Banwell:  

What questions should patients ask their doctor about detection? 

Dr. Nita Karnik Lee:  

I think that when we’re thinking about detection, or if somebody has these symptoms coming up, definitely asking, like, hey, you know what? I’m seeing you as an internist, but I haven’t had a pelvic exam. So, making sure you’re seeing a gynecologist or an internist or family medicine doctor who can do a vaginal and a rectal exam is one important step. Perhaps getting an ultrasound or perhaps getting a CAT scan if the symptoms are more significant.  

Unfortunately, we still see a lot of women who have these sort of vague symptoms, maybe they’re GI-related, and they get a workup for like six months on an EGD, or a colonoscopy, or they tried Pepcid. And all of those things are good, and they’re not unreasonable to do, but I think something else that can be done in addition would be a pelvic ultrasound, as an example.

I would say that if somebody doesn’t have any of those symptoms, but they have a family history, that’s why we’re in a little bit more of a bind as to know what the right thing to do is. We know that for patients who have a known BRCA mutation and are not ready for risk reduction surgery, we often will use ultrasound, but we know that ultrasound is not perfect.