breast cancer genetic testing

Hereditary Breast Cancer Testing: New Recommendations

breast cancer genetic testing

picture from: https://geneticliteracyproject.org/2019/02/21/do-all-breast-cancer-patients-need-genetic-testing/

Earlier this year, the American Society of Breast Surgeons (ASBrS) issued an updated recommendation stating that all women diagnosed with breast cancer should have access to a multi-gene panel (such as Myriad, Invitae, or Ambry) to look for gene variants associated with inherited cancer predisposition. In addition, women who had cancer genetic testing in the past should consider updating their genetic testing to include genes and variants that may not have been assessed previously.

What does this update mean for our patients?

This recommendation is a testament to how far we’ve come with regard to advances and insights about genetic testing for cancer predisposition syndromes. While past recommendations focused on women with variants in BRCA1 and BRCA2, and typically extensive personal and family histories of breast/ovarian cancer, newer research has shown that many other genes increase one’s risk for breast cancer, such as PALB2 and CHEK2. Furthermore, when focusing on BRCA1 and BRCA2, some variants may not cause the extreme risks often quoted (generally, women with BRCA1/2 variants are counseled that they have up to an 87% lifetime risk of breast cancer). All that said, while we’ve identified a lot of people who carry variants in BRCA1 and BRCA2, there are many, many women out there who still have high [genetic] risk for breast cancer that we haven’t identified.

These are missed opportunities. Missed opportunities for us to diagnose breast cancer at an earlier, more treatable stage, and missed opportunities to prevent cancer altogether. Furthering the idea of cancer prevention, we lose the chance of identifying at-risk relatives as well. Not just women with higher risks of breast cancer, but women AND men who have higher risks of other cancers that might be associated with some of these lesser known genes.

I’ve worked in a lot of different settings in my 13 years as a genetic counselor. I’ve certainly seen the families with way too much cancer – those families that you just know have an inherited risk regardless of their genetic result. But on the other end of the spectrum, I’ve seen a whole lot of people more recently start to think proactively about their health and seek genetic testing just in case there’s something found that they can act on – people seeking preventative genetic testing and the advances of personalized medicine. And those people also get informed of “positive” results from time to time. For those individuals – while they didn’t necessarily get the reassurance (i.e. negative results) they were probably hoping for, they get the upper hand to cancer, hoping the new knowledge they have can help prevent it or if not, beat it once it comes.

What data led to the ASBrS update?

In fact, part of the reason the ASBrS issued this recent update to their recommendations is because of research that’s shown no significant difference in identification of pathogenic (i.e. medically significant) variants in women who meet testing guidelines published by the National Comprehensive Cancer Network (NCCN) and those who don’t. In short, the guidelines aren’t working. And if they aren’t working, then why shouldn’t we broaden them (the guidelines) so the net is bigger?

 

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