Genetic Considerations

Breast cancer is a feature of several cancer syndromes including Cowden syndrome, Li-Fraumeni syndrome, Peutz-Jeghers syndrome, Bloom syndrome, Werner syndrome, ataxia-telangiectasia, and xeroderma pigmentosum, but these account for less than 1% of all breast cancers.

More familiar to most people are the nonsyndromic breast cancer susceptibility genes, which account for 5% to 10% of breast cancer cases. The two most widely known genes are BRCA1 and BRCA2, both tumor suppressor genes. Lifetime risk of becoming affected by breast cancer for mutation carriers has been estimated at between 60% and 88%.

Breast cancer is considered a complex (multifactorial) disorder caused by both nongenetic and genetic factors. Several genes have been shown to contribute to susceptibility. These include the tumor suppressor gene CHEK2.

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