Hereditary Breast Cancer: The Era of New Susceptibility Genes
Open Access
- 21 March 2013
- journal article
- review article
- Published by Hindawi Limited in BioMed Research International
- Vol. 2013, 1-11
- https://doi.org/10.1155/2013/747318
Abstract
Breast cancer is the most common malignancy among females. 5%10% of breast cancer cases are hereditary and are caused by pathogenic mutations in the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes have been discovered and BRCA1 and BRCA2 predisposition seems to be only a part of the story. These new findings include rare germline mutations in other high penetrant genes, the most important of which include TP53 mutations in Li-Fraumeni syndrome, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome. Furthermore, more frequent, but less penetrant, mutations have been identified in families with breast cancer clustering, in moderate or low penetrant genes, such as CHEK2, ATM, PALB2, and BRIP1. This paper will summarize all current data on new findings in breast cancer susceptibility genes. Breast cancer is the most common malignancy among females. 5%10% of breast cancer cases are hereditary and are caused by pathogenic mutations in the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes have been discovered and BRCA1 and BRCA2 predisposition seems to be only a part of the story. These new findings include rare germline mutations in other high penetrant genes, the most important of which include TP53 mutations in Li-Fraumeni syndrome, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome. Furthermore, more frequent, but less penetrant, mutations have been identified in families with breast cancer clustering, in moderate or low penetrant genes, such as CHEK2, ATM, PALB2, and BRIP1. This paper will summarize all current data on new findings in breast cancer susceptibility genes.This publication has 130 references indexed in Scilit:
- Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk familiesFamilial Cancer, 2012
- Rare Mutations in XRCC2 Increase the Risk of Breast CancerAmerican Journal of Human Genetics, 2012
- Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer familiesBritish Journal of Cancer, 2012
- Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefitsFamilial Cancer, 2010
- Estimates of cancer incidence and mortality in Europe in 2008European Journal of Cancer, 2010
- Taking the time to make important decisions: The checkpoint effector kinases Chk1 and Chk2 and the DNA damage responseDNA Repair, 2009
- Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric CancerJAMA, 2007
- PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility geneNature Genetics, 2006
- Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast CancerJAMA, 2006
- Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2Nature Genetics, 1996