The month of October is Breast Cancer Awareness month.  I think that it is safe to say that we all know someone that has had breast cancer affect their life.  We all where our pink ribbons, run the Race for the Cure and where shirts that say, “Save the Ta Ta’s”.  But are we really doing our part?  Hopefully by being a regular visitor of skinnymom.com you are aware of the impact of exercise, eating healthy and in general living a healthy life.  Certainly we cannot going around being paranoid and acting like a bunch of hypochondriacs but the fact is what have you done to guard your family against breast cancer?

BRCA-1 & BRCA-2

First and foremost, we should all be getting to know our bodies at home and routinely checking for bodily changes.  Secondly, we should be making those annual gynecological visits and asking questions.  You need to be discussing your obvious risks with your gynecologist.  Would you benefit from mammograms? Would you benefit from genetic testing from breast cancer, (brca)?

By being an advocate for yourself, your family and your legacy you MUST be proactive!

Since most of use have heard about screening for breast cancer thru mammograms and ultrasounds I would like to discuss a little about the breast cancer gene testing, known as BRCA.

STATS:

According to the American Cancer Society (ACS), about 200,000 women are diagnosed with invasive breast cancer each year and about 20,000 with ovarian cancer.   And of these, approximately  5% to 10% will be due to a harmful mutation in BRCA-1 or BRCA-2 genes.

BRCA-1 and BRCA-2 is known as Breast Cancer Susceptibility genes 1 & 2.

BRCA is used to assess the risk of developing breast or ovarian cancer associated with inheriting  mutations  in the BRCA-1 or BRCA-2 genes.

You should get tested when  you have a family history of breast cancer before the age of 50 or any history of ovarian cancer at any age.  

The sample can be either taken from swabbing the cheeks or by a blood sample.   The DNA  in cells is used to detect mutations in the BRCA genes.

BRCA-1 and BRCA-2 are two tumor suppressor genes that normally help prevent cancer by producing proteins that suppress abnormal cell growth. Certain changes or mutations in these genes can be linked  with hereditary breast and ovarian cancers.

Women that have  inherited the  mutations in BRCA-1 or BRCA-2 have up to a 60% lifetime risk of developing breast cancer and a 15-40% lifetime risk of having ovarian cancer. Breast cancer in women with inherited mutations is likely to develop at an earlier age. Mutations may be present in either or both copies of the genes.

The importance of this article is the awareness and to open the conversation so you can be a little more informed about the medical options that are available to you.  So ask your gynecologist about BRCA!

There are many different BRCA mutations, but most of them are rare .    There are specific BRCA1 and BRCA 2 mutations that are associated with some ethnic groups, such as those of Ashkenazi Jewish descent.

Only about 0.2% of the U.S. population carries a BRCA-1 or BRCA-2 mutation. Because of this, screening is not recommended for the general population. BRCA testing should be considered for those women who do have close male or female relatives who have been diagnosed with breast cancer or have female relatives with ovarian cancer. This is especially true if the cancer occurred before the person was 50 years old.

A negative result does not mean that a woman will not develop breast  or ovarian cancer, but  that the person tested is not at increased risk for developing hereditary breast cancer or ovarian cancer related to the BRCA.  It is important to remember that 90-95% of breast cancers are not associated with a BRCA mutation.  The lifetime risk of developing breast cancer in the general population is approximately 12% and the lifetime risk of developing ovarian cancer is about 1.4%. The risks increase with age.

The presence of a BRCA-1 or BRCA-2 mutation means that the person tested is at an increased risk for breast and/or ovarian cancer, but it does not mean that she will ever have them. Estimates of lifetime risk for breast cancer in women with BRCA-1 or BRCA-2 mutations is about 60% and estimates of risk for ovarian cancer ranges from 15% to 40%.

 

Something else to remember is a positive test result can  have implications for other family members. When one member of a family is tested for BRCA mutations, issues often arise about how or whether to share this information with other family members.


If the BRCA test is positive, the options include increased frequency of check-ups  to include mammograms, blood test and ultrasounds.
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