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J Surg Oncol. 2012 Apr 1;105(5):444-51. doi: 10.1002/jso.21856.

Translational advances regarding hereditary breast cancer syndromes.

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  • 1National Capital Area Breast Care Center, National Naval Medical Center, Bethesda, Maryland, USA.


Approximately 5-10% of breast cancers may be inheritable, up to 90% of which are due to mutations in BRCA1 and BRCA2. A substantial minority are caused by non-BRCA mutations, such as TP53, PTEN, STK11, CHEK2, ATM, BRIP1, and PALB2 mutations. This review highlights translational research advances with regard to the development of probabilistic models for hereditary breast cancer syndromes, the identification of specific genetic mutations responsible for these syndromes, as well as their testing and interpretations.

Copyright © 2012 Wiley Periodicals, Inc.

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