A reminder about the BRCA 1 & 2 genetic deleterious mutations

A brief hiatus in our breast cancer prevention series for the sporadic or breast cancers which apply to 80% of women (most women who get breast cancer don't have a family history of breast cancer).  

Some 20% of women have a familial history of breast cancer and in 5-7% a deleterious mutation in the breast cancer genes, BRCA 1 & 2 can be found.  Since the deleterious mutations in these genes may carry almost a 90% life-time risk of breast cancer and 45% risk of ovarian cancer, it is worth reviewing to whom the test might apply.  Because a high profile figure described her experiences today in the NYTimes http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?hpw&_r=0, I decided to review the Hereditary Breast and/or Ovarian Cancer Syndrome Testing Criteria established by the National Comprehensive Cancer Network.  You may find more information at the NCCN website http://www.nccn.org/patients/default.asp, but I will summarize some of the guidelines so that if any of these apply to you, you may ask your doctor about the test.

Testing for the BRCA1/BRCA2 mutation may apply to you if:

• Anyone in your family has been tested and has a BRCA1/2 mutation
• You have been diagnosed with breast cancer and have one of the following:
• diagnosed < 45 years old
• diagnosed any age with one close blood relative with breast cancer < 50 years old
• diagnosed any age with one close blood relative with ovarian cancer any age
• you have 2 separate breast cancer before age 50
• diagnosed with triple negative breast cancer < 60 years old
• diagnosed < 50 years with limited family history
• diagnosed at any age with 2 or more blood relatives with breast cancer
• diagnosed at any age with 2 relatives with high grade prostate cancer
• close male relative with breast cancer
• any woman of ethnicity associated with high mutation frequency (eg Ashkenazi)
• You have been diagnosed with ovarian cancer
• Personal history of male breast cancer
• Personal history of pancreatic or aggressive prostate cancer with 2 blood relatives with breast and/or ovarian cancer and/or pancreatic or prostate cancer
• Three blood relatives on the same side of the family with breast and/or ovarian cancer

See how complicated it can get?  These are the most frequent reasons for testing, but tell your doctor all your family history of cancer, not just breast and ovarian, but prostate and pancreatic.

Thanks to Angelina Jolie for her op-ed.

Together we can prevent 86,000 breast cancer cases this year!

This is content is general and not personal medical advice, but remember to  ask your doctor if you have a family history of the above, or call me for help: 512-451-5788.