Susceptibility to breast cancer: hereditary syndromes and low penetrance genes.
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.
Nusbaum
Rachel
R
Georgetown University, Lombardi Comprehensive Cancer Center, Washington, DC 20007-2401, USA. rhm23@georgetown.edu
Vogel
Kristen J
KJ
Ready
Kaylene
K
D001260:Ataxia Telangiectasia / Q000235:genetics; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D019683:Penetrance; D010580:Peutz-Jeghers Syndrome / Q000235:genetics; D013274:Stomach Neoplasms / Q000235:genetics