Friday, December 21, 2012

Facts About BRCA1 and 2 Mutations



Mutations in the BRCA 1 and 2 genes aren’t just causing breast cancer. Women who discover that they carry these genes are 80 percent more likely to develop breast cancer, and 40 percent more likely to develop ovarian cancer. With that knowledge, many women become “previvors” by undergoing double mastectomies (removing both breasts) before being diagnosed, or removing both ovaries.

There are a few things you should know about the BRCA genes.
  • A woman who has inherited a harmful mutation in BRCA1 or BRCA2 is about five times more likely to develop breast cancer than a woman who does not have such a mutation.
  • Not all mutations are harmful. They can be beneficial or neutral, with no obvious effect.
  • Harmful mutations can cause cancer before menopause.
  • Women with harmful BRCA1 mutations may increase the risk of developing cervical, uterine, pancreatic, and colon cancer.
  • Women with harmful BRCA2 mutations may increase the risk of pancreatic, stomach, gallbladder, and bile duct cancer, as well as melanoma.
  • In the general population, 14 percent (14 out of 1,000) of women will develop ovarian cancer. However, the genetic mutation raises the statistic to 15-40 percent (150-400 out of 1,000) of women who will develop ovarian cancer.
  • Not every woman in families that carry a harmful BRCA1 or BRCA2 mutation will develop cancer.
  • Not every woman who has a harmful gene mutation will develop breast and/or ovarian cancer.
  • Not every cancer in such families is linked to a harmful mutation in one of these genes.
  • Men can be carriers of the mutations and their children can inherit them.
  • Men can also be affected by the mutations and may develop breast cancer.
  • Men with harmful BRCA1 or BRCA2 mutations have an increased risk of breast, pancreatic, testicular, and early-onset prostate cancer.
  • Mutations in several other genes (TP53, PTEN, STK11/LKB1, CDH1, CHEK2, ATM, MLH1, and MSH2) have been associated with hereditary breast and/or ovarian tumors.



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