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Watch the full interview with Dr. Avery here: https://outcomes4me.com/webinar/unlocking-precision-care-genetic-testing-for-breast-cancer-management/
*The transcript below has been edited for readability
Okay so I think that’s a good transition into one of our first Community questions and then I’m going to repeat what you said because I think there’s a common misconception that there is a germline genetic like link to most breast cancers. It’s really just the opposite .if you are a woman or a man and you haven’t been diagnosed with breast cancer yet but there is some family history you know what what factors determine eligibility for genetic testing in breast cancer.
The first thing to note is that it is most useful to conduct germline testing in someone who has cancer. That’s number one. That is the most useful scenario for these breast cancer patients or survivors. It is most important for people who have cancer to get germline testing. Now does that mean that there are not certain family history characteristics where if you don’t have cancer you haven’t gotten it that you should get tested.
Yeah, there are but it’s always more useful if you catch a genetic mutation by testing someone who actually has cancer. Now with that being said what constitutes a strong family history? In general, that gets thrown around a lot. I have something in my family and I told you off camera before we started I’m Southern so we talk about this a lot. Your first cousin, second cousin, third cousin twice removed and like how deep do you have to go with everything?
If in your family there is a history of young breast cancer meaning someone had breast cancer under the age of 50 in your close family. Close family means first, second, or third degree relatives. We’re talking about like mom, dad, sister, brother, children, nieces, nephews, great grandparents, first cousins once, like me. You start to get to the second and third cousin where we’re not talking about those so much. You’re close kind of your first second or third degree relative.
If there’s young breast cancer under the age of 50, if there’s male breast cancer, if you have someone with pancreatic cancer, ovarian cancer, or certain forms of prostate cancer in a close relative that’s also sort of another risk factor. Beyond that if you have one side of your family like if you’re thinking about it there’s one side of your family that has three or more cancers that’s also something to consider. I assume then the question of when to do germline testing is much broader. In that instance, all of the family history questions still apply but also if someone is under the age of 50 anyone with triple negative breast cancer would be offered germline testing.
There are certain clinical scenarios where germline testing is important for treatment decisions. There are certain ethnic groups like Ashkanazi Jewish families where there’s a Founders mutation that has been identified in those families that lead to a higher risk of breast cancer. That would be another indication as well. The other important point for patients who are diagnosed with breast cancer is if there’s a lobular breast cancer and a history of stomach cancer. Diffuse gastric cancer, that would be another indication for genetic testing.
It is complicated. It is complicated to know those different avenues and when you should be advocating for yourself. If you have not just naturally been offered it through one of your doctors, which does unfortunately happen all the time, depending on where you’re receiving your care.
It sounds like because there are so many avenues it’s best just to understand that this this line of testing exists it’s important and that you should just bring it up and have a conversation with your doctor.
Absolutely, it doesn’t hurt to ask when you’re diagnosed “do I need germline testing?” If you can’t remember germline, “Do I need testing for a family history? Do I need genetic testing for hereditary cancer? Is that indicated?”