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Joining FORCES is the FORCE newsletter with news, views and supportive information for individuals concerned about hereditary breast and ovarian cancer.

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Voices of FORCE

Beyond BRCA: Testing for Mutations in Other Genes that Increase Cancer Risk

by Sue Baker

In August of 2015 I was diagnosed with stage 1 breast cancer; further tests revealed that I have a mutation in the BRIP1 gene. Because my health provider has only been testing for BRIP1 mutations for the past year or so, I consider myself lucky to have been able to be tested. It is sobering to think that if I'd been diagnosed with breast cancer even a year ago I might not have been tested for this mutation, and would have missed getting important information about further care that might well save my life.

The BRIP1 genetic mutation is a "moderate risk" mutation, and is connected to a higher incidence of breast cancer and ovarian cancer. While research on this gene is in the beginning stages, studies suggest that the risk of breast cancer in BRIP1-positive women is 22-33%, and the risk of ovarian cancer is 5-7%. Currently, there are various recommended courses of action, including heightened monitoring and prophylactic surgery.

Because I am BRIP1 positive, have a family history of premenopausal breast cancer (my mother at age 35), a history of melanoma, and had stage 1 breast cancer, my doctors recommended a bilateral mastectomy and an oophorectomy with removal of the fallopian tubes. I underwent the mastectomy in September and will have the hysterectomy in the spring. I've elected to have a full hysterectomy because I would rather have my uterus and cervix removed to eliminate any chance of cancer in those organs — it is a personal choice.

While my positive diagnosis of the BRIP1 genetic mutation was a shock, I am grateful for the information (knowledge is power, right?), and also for the opportunity to have prophylactic surgery. Not to be Pollyanna-ish, though, this entire thing has been a difficult journey that I would have much rather avoided.

For more information on the BRIP1 genetic mutation visit http://www.facingourrisk.org/understanding-brca-and-hboc/information/hereditary-cancer/new-genes/basics/brip1.php.

Sue Baker is the mother of a 14-year-old son, and is a professor in the Department of Teacher Credentialing in the College of Education at CSU Sacramento.

Share Your Story

Do you have something to say that may inform our readers or ease their experience?
We invite you to share your reflections or personal story about dealing with
the issues of hereditary breast or ovarian cancer. Tell us how you feel, how you
cope, or what you've learned. E-mail stories of 500-550 words to info@facingourrisk.
org or mail to FORCE, 16057 Tampa Palms Blvd. W., Tampa, FL 33647. Please
include your name and daytime telephone number so we can contact you if we
decide to publish your story in a future issue.

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