Affiliations: [a] Georgetown University, Lombardi Comprehensive Cancer Center, Washington, DC, USA | [b] Evanston Northwestern Healthcare, Center for Medical Genetics, Evanston, IL, USA | [c] University of Texas M.D. Anderson Cancer Center, Houston, TX, USA | Georgetown University, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC 20007, USA
Correspondence:
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Correspondence author: Georgetown University, 3300, Whitehaven Street, NW; Suite 4100; Washington, DC 20007-2401, USA. Tel.: +1 202 687 8279; Fax: +1 202 687 0305; E-mail: rhm23@georgetown.edu
Abstract: Several genes are associated with hereditary susceptibility to breast cancer. Most notably these include BRCA1 and BRCA2; however, other less common gene mutations which confer elevated breast cancer risk are associated with Cowden syndrome, Li-Fraumeni syndrome, Peutz-Jeghers syndrome, ataxia-telangiectasia heterozygosity and hereditary diffuse gastric cancer. In this article we highlight the genetic epidemiology, gene function, genotype-phenotype correlations, cancer risks and clinicopathologic findings for the cancer susceptibility genes related to these syndromes. We also examine genes, such as CHEK2, which confer a lower penetrance for breast cancer in comparison to these highly penetrant genes.
Keywords: Hereditary breast cancer, BRCA1 and BRCA2, breast cancer susceptibility, breast cancer syndromes, cancer risks
DOI: 10.3233/BD-2007-27103
Journal: Breast Disease, vol. 27, no. 1, pp. 21-50, 2007
