Tag Archive for: CA-125

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.

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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. 

Essential Testing Following an Ovarian Cancer Diagnosis

 

What essential testing should follow an ovarian cancer diagnosis? Dr. Heidi Gray explains that patients should undergo both genetic testing, which identifies inherited risk factors, and molecular testing, which evaluates specific tumor mutations.

Dr. Heidi Gray is the Division Chief of Gynecologic Oncology and the Director of Gynecologic Oncology Clinical Trials at UW Medicine. Learn more about Dr. Gray.

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Transcript:

Katherine Banwell:  

Dr. Gray, what essential testing should people with ovarian cancer have following diagnosis?  

Dr. Heidi Gray:  

That’s a great question. We’re learning more and more about this disease. Therefore, we also have a lot more variety of tools to look at to be able to match better therapies for patients. Historically, when patients were diagnosed with ovarian cancer, it was based on just the pathology at the time of surgery and some lab testing called the CA-125, which many patients with ovarian cancer are familiar with.  

The next level of testing that we are doing for ovarian cancer is really to look at how aspects of either the patient themselves or of the cancer themselves that might better match therapies. So, the first line of testing we recommend for all women for ovarian cancer is genetic testing. Genetic testing is blood-based testing.  

It is testing for if you have an inherited gene or a mutated gene, that’s being passed along through families that may have put you at risk of developing ovarian cancer and potentially breast cancer. That is recommended for all women and patients who have been diagnosed with ovarian cancer because we know about 15 percent to 20 percent of these cancers are due to a genetic cause. 

The other level of testing that we have incorporated is what we call molecular testing. Other terms for it are “tumor-based testing” – I think you use the term “biomarker testing.” Some people use the term “precision medicine,” and that is a little different. That is testing that is actually testing the tumor itself. It’s looking at a variety of different factors but particularly looking at mutations in the cancer itself, in the tumor itself, so different than the genetic, which is an inherited thing. This is in the tumor itself. There is some overlap of that.  

But it has an expanded profile of different targets that we can match therapies to. 

Katherine Banwell:  

Would you define biomarker testing for us? 

Dr. Heidi Gray:  

Yeah. So, biomarker testing is just that. It is more expanded testing, particularly tumor testing is one aspect of it. There can also be some blood testing, genetic testing. Then there is a new realm also of looking at cell-free DNA or ct or tumor DNA in the blood as well too that is gaining a lot of interest.