Abstract
Breast cancer is the second most common cancer among women and the second leading cause of cancer death in the US. In 2006, more than 214,000 new breast cancer cases were diagnosed. It is estimated that close to 50,000 women died of the same disease in 2006.13 Breast cancer develops in about 12% of women who live to age 90. A positive family history is reported by 15–20% of women with breast cancer. Studies of twins suggest that heritable factors accounts for 25 to 30% of all breast cancers.20 However, less than 7% of all breast cancers are associated with known inherited high penetrance gene mutations. The first two major susceptibility genes for breast cancer, BRCA1 and BRCA2, were identified in 1994 and 1995, respectively.23,39 Other tumor susceptibility genes such as TP53 are known to increase breast cancer risk to an even greater level than BRCA1 and BRCA2. Nonetheless, deleterious mutations of TP53 are rare and therefore accounts for a much smaller proportion of breast cancer cases.19 We will review recent developments in the search for additional breast cancer susceptibility genes, recommendations for genetic counseling referral as well as follow-up of BRCA- gene mutation carriers.
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