Abstract
Hereditary cancer syndromes: opportunities and challenges.
Highlights
Breast cancer is a significant health care problem worldwide
Several hereditary breast cancer syndromes have been identified to date and mutations in many different genes have been described with these forms of the disease including those in BRCA1, BRCA2, TP53, PTEN, ATM, among others
The magnitude of risk associated with mutation carriage is significant, i.e. carriers of mutations in the BRCA1 and BRCA2 genes have an estimated lifetime risk of 70-85%, compared to the lifetime risk of women in the general population which is close to 10%
Summary
Breast cancer is a significant health care problem worldwide. Among women with this diagnosis, a subset of patients with previously identifiable risk factors can be recognized. A study from the same region, involving 3,665 cancer-unaffected women between the ages of 40 and 69 years undergoing screening mammography, identified a significant 5-year breast cancer risk in approximately 7% [2].
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