Moving Beyond the Obvious
In previous blog posts, I discussed some reasons why I did not find out until recently that I carried a BRCA mutation. In this entry, I want to discuss in greater detail why I was not tested until now. The bottom line is that I did not meet the criteria for screening.
Below are the National Comprehensive Cancer Network (NCCN) recommendations for BRCA1/2 genetic testing. Next to them, I noted whether or not I met each criterion prior to 2021 (or whether I had the appropriate knowledge and information).
- A family member with a BRCA1/2 inherited gene mutation or other high-risk inherited gene mutation related to breast cancer (I was unaware of this, so no)
- A personal or family history of breast cancer at age 45 or younger Questionable (see explanation below)
- A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2-negative) diagnosed at age 60 or younger No
- Ashkenazi Jewish heritage and a personal or family history of breast cancer Questionable
- A personal history of breast cancer at age 46-50 and a close family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin) diagnosed with breast cancer at any age No
- A personal history of breast cancer at any age and a close family member diagnosed with breast cancer at age 50 or younger No
- A personal history of breast cancer at any age and 2 or more close family members diagnosed with breast cancer at any age No
- A family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew or niece) diagnosed with breast cancer at age 45 or younger No
- A personal or family history of ovarian cancer, pancreatic cancer, aggressive prostate cancer or metastatic prostate cancer at any age Yes—ovarian, grandmother
- A personal or family history of male breast cancer No
Lots of Nos there. It’s no surprise, therefore, that I was not tested until this year.
First, a lot of the criteria begin “A personal history of breast cancer…” In my opinion, that’s too late. If the ultimate goal is cancer prevention, testing criteria that focus on post-diagnosis are all wrong. It helps other family members, but it won’t help the patient.
Further, the focus of these criteria is family history of breast cancer. In my case, my grandmother had ovarian cancer. Only one of the above criteria mention ovarian cancer. My gynecologist knew of my grandmother’s illness, but it did not lead to him recommending testing. Ovarian cancer seems to be the illegitimate stepchild of BRCA.
Finally, why did I write Questionable next to some of them? Many criteria use the vague term “family history.” However, the “family” members to be considered here are not well defined. In my case, the family history of breast cancer was 2 great-aunts, one who died in 1944, and the other who died in 1961. These are considered third-degree relatives. (First degree is parents/children/siblings; second degree is aunts/uncles, grandparents, and grandchildren.) Yes, I did learn at some point that they died of breast cancer, but since I never knew them and it was so long ago, when asked to think about my family history, I never considered them. They were simply too distant.
cisforchaya.com 