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Hum Genet. 2008 Aug;124(1):31-42. doi: 10.1007/s00439-008-0529-1. Epub 2008 Jun 25.

Hereditary breast cancer: new genetic developments, new therapeutic avenues.

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Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC, Canada.


Six genes confer a high risk for developing breast cancer (BRCA1/2, TP53, PTEN, STK11, CDH1). Both BRCA1 and BRCA2 have DNA repair functions, and BRCA1/2 deficient tumors are now being targeted by poly(ADP-ribose) polymerase inhibitors. Other genes conferring an increased risk for breast cancer include ATM, CHEK2, PALB2, BRIP1 and genome-wide association studies have identified lower penetrance alleles including FGFR2, a minor allele of which is associated with breast cancer. We review recent findings related to the function of some of these genes, and discuss how they can be targeted by various drugs. Gaining deeper insights in breast cancer susceptibility will improve our ability to identify those families at increased risk and permit the development of new and more specific therapeutic approaches.

[Indexed for MEDLINE]

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