Everyone has a BRCA1 and BRCA2 gene.

• There are a few thousand mutations on BRCA1 and BRCA2.

• I have a specific BRCA1 mutation called C61G.  We have enough data on C61G to know that it’s harmful.

• When I tested positive, my doctor and genetic counselor told me that my risk was up to an 87% chance of getting breast cancer and up to a 60% chance of getting ovarian cancer by the age of 70.  These numbers will vary depending on who interprets your test results.

• We’re learning about other cancer risk genes.   Other cancer risk genes have many variations of uncertain significance.  These genes include:
  • AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK1, CHEK2, CTNNA1, FAM175A (Abraxas), GALNT12, GEN1, GREM1, HOXB13, MEN1, MLH1, MRE11A, MSH2 (+EPCAM), MSH6, MUTYH, NBN, PALB2, PIK3CA, PPM1D, PMS2, POLD1, POLE, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TP53BP1, VHL, and XRCC2

• Since last year’s Supreme Court case on human gene patents, there are many new offerings of BRCA genetic testing.  However, these diagnostic tests vary widely in accuracy, cost, and ethical data sharing practices.  http://www.nature.com/ejhg/journal/v21/n6/full/ejhg2012217a.html

• Men can also carry BRCA mutations – and they also have an increased risk of cancer.

• Current USPSTF guidelines of health coverage services for BRCA, women who have already been diagnosed with breast or ovarian cancer (without family history) do not qualify for preventative services because their care is no longer considered ‘preventative.’

• “50% of families found to harbor BRCA1 or BRCA2 mutations had no history of breast or ovarian cancer that would have triggered clinical attention.”

• It is estimated nearly 1 million people in the United states carry a BRCA mutation.  Only 10% of people who carry an BRCA mutation actually know it.  

•  Know your breast density.  The ability of mammography to detect a cancer is 80% among women with predominantly fatty breasts but just 30% in women with highly dense breasts.  http://www.ncbi.nlm.nih.gov/pubmed/1088055

• 23-30% of women who have developed stage 1,2, or 3 breast cancer go on to develop the metastatic disease. http://www.metavivor.org/research/

Resources:

• Get more great facts and the latest research at Facing Our Risk
• Free The Data
• Look up your variant/mutation in ClinVar
• Join the ABOUT Network