Article excerpts: It wasn't until I was diagnosed with breast cancer last fall at 30 years of age that I was tested for the BRCA1 and BRCA2 mutations. The results were more shocking to me than my actual breast cancer diagnosis: I do not carry the BRCA1 or BRCA2 mutations.
The results yielded more questions than answers for me. How could I test negative when there is such a strong family history of the disease? How did I get breast cancer at a younger age than any of the women in my family?
I should have been relieved to know that I didn't carry the gene mutation, but if it wasn't a BRCA mutation, what caused the women in my family to have a higher risk of breast cancer?
Interestingly, mutations in the BRCA1 and BRCA2 genes account for only about one quarter of hereditary breast cancers. Mutations in other genes, including CDH1, STK11 and TP53 have been found to increase the risk in developing breast cancer. These mutated genes differ from BRCA1 and BRCA2 because they cause syndromes that greatly increase the chance of developing cancer over a person's lifetime. Scientists have also found that inherited mutations in the ATM, BARD1, BRIP1, CHEK2, NBN, PALB2, RAD50 and RAD51 genes may also be associated with a higher risk of breast cancer, and they are constantly learning more about how genetics affect predispositions to the disease.
It is very important to know your risk and protect yourself accordingly. However, for the at-risk women with family histories of breast cancer who test BRCA negative, the false sense of relief these negative tests provide is extraordinarily troublesome in light of the fact that 75% of hereditary breast cancers are not related to the BRCA1 and BRCA2 mutations. For me, the most concerning thought was whether I would have been as vigilant in my screening had I received the BRCA negative test results prior to my breast cancer diagnosis.
Women simply cannot rest on the results of one test, particularly if they have a family history of the disease. Knowing the risk or acknowledging a family history of the disease is half the battle. The first thing a young at-risk woman can begin to do is begin self-breast exams in her teens and early twenties. Resources like the American Cancer Society provide step-by-step instructions on how to conduct a self-breast exam. If there are any changes or abnormalities when conducting regular self-breast exams, these differences may be noticeable and can be addressed as soon as detected.
It is also important for women to have a candid discussion with their health care professionals with regard to genetic testing, their screening regimen and what they can do to protect themselves. Knowledge is power. Understanding risks, family history and genetic predispositions to breast cancer, in addition to knowing the options available for early detection and prevention, will help guide the decisions for proper vigilance.
For me, regular screenings beginning at the age of 25 and awareness of my increased risks enabled me to detect my breast cancer at the earliest possible stage. I didn't dodge a bullet because I was BRCA negative. It was knowing my risks and being vigilant that saved me from the spread of breast cancer, saved me from extensive treatments and saved my life.
