Posted on: July 5, 2012
Knowledge is Power
by Nancy Cohen, MS, CGC
Yesterday was a really good day. I was able to tell a young woman that she doesn’t have the mutation in the BRCA2 gene that her mother carries.
I often tell patients that they do not have a deleterious mutation (change that increases the risk for certain cancers) in either of the BRCA genes associated with Hereditary Breast and Ovarian Cancer Syndrome (HBOC Syndrome). So, why was yesterday so special?
When there is a mutation in the family and a family member is found not to carry the mutation, the result is considered ‘informative': The mutation has been determined to be the cause of the family’s cancer history. However, each first-degree relative of a family member with a mutation has a 50% chance to have the same mutation as their relative and a 50% chance not to carry it. This is because our genes all come in pairs and only one of the pair is passed along as either the egg or sperm is made.
When I first met my patient she was informed that she either received the copy of the BRCA2 gene that had the mutation from her mother, or the copy that did not have the mutation. Her test result informed her she did not inherit it.
Since my patient was found not to have the mutation that was the known cause of the cancer in the family, her genetic testing reveals that she has the same risk as the general population for the cancers associated with HBOC syndrome.
Armed with this new information, she was advised to begin mammography at age 40, just like women in the general population. She no longer has to consider if she wants to have risk-reducing mastectomy, or the timing of recommended oophorectomy (removal of the ovaries) for those who have a BRCA mutation!
Editor’s Note: Nancy Cohen, MS, CGC, is the Genetic Counselor at The Breast Institute at Northern Westchester Hospital.
To request an appointment with Nancy Cohen, go to: http://nwhbreastinstitute.org/default/what-to-expect/request-an-appointment or call 914.242.7649 or 914.242.7640