Genetic Testing

As part of my treatment game plan, my surgeon, Dr. Coleman, suggested that I be tested to see if I have any cancer gene mutations. This is important information for me to consider as I decide whether to have a double or single masectomy.

From the National Cancer Institute website: "BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell's genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer."

"A woman's lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2."

I met with a genetic counselor in November who spent about an hour going through my family history and explaining the process to me. She calculated my risk for a mutation at the time as only 2.7%. A number of studies have shown, however, that triple negative breast cancer tumors are associated with BRCA1 carriers. Plus, my family had a "mother-daughter pairing" of breast cancer which is also a possible indication of a mutation. I decided to go ahead with the testing and I opted to have them test for all mutations. At this time, they are not sure what all mutations mean so I was warned that I may test positive for mutations and not have any guidance for me on how to plan a treatment around those types of mutations.

On December 14, I returned to the genetic counselor for the results. The meeting took five minutes. I have no mutations or variants in the genes that they tested. Yes!

"... No mutations or variants of unknown significance were detected. Due to limitations of the current testing, negative test results in a woman diagnosed with breast cancer must be interpreted within the context of her personal and family history. Genetic testing was appropriate for Ms. Hable, given her diagnosis of early-onset triple negative breast cancer and a mother-daughter pair with breast cancer. There is no family history of ovarian cancer, male breast cancer or multiple HBOC-related cancers in one individual, however.

"Ms. Hable's cancer might be more appropriately classified as 'familial', i.e. due to multifactorial causes, the presence of low penetrate genes or a clustering of sporadic occurrences."

" Implications for Family Members: ... Women who had both a mother and sister with breast cancer were 3.6 times as likely to develop breast cancer as women with no affected first degree relatives."