Genetic susceptibility to breast cancer
- 21 May 2010
- journal article
- review article
- Published by Wiley in Molecular Oncology
- Vol. 4 (3), 174-191
- https://doi.org/10.1016/j.molonc.2010.04.011
Abstract
Genetic and lifestyle/environmental factors are implicated in the aetiology of breast cancer. This review summarizes the current state of knowledge on rare high penetrance mutations, as well as moderate and low-penetrance genetic variants implicated in breast cancer aetiology. We summarize recent discoveries from large collaborative efforts to combine data from candidate gene studies, and to conduct genome-wide association studies (GWAS), primarily in breast cancers in the general population. These findings are compared with results from collaborative efforts aiming to identify genetic modifiers in BRCA1 and BRCA2 carriers. Breast cancer is a heterogeneous disease, and tumours from BRCA1 and BRCA2 carriers display distinct pathological characteristics when compared with tumours unselected for family history. The relationship between genetic variants and pathological subtypes of breast cancer, and the implication of discoveries of novel genetic variants to risk prediction in BRCA1/2 mutation carriers and in populations unselected for mutation carrier status, are discussed.Keywords
This publication has 149 references indexed in Scilit:
- Genetic variants on chromosome 5p12 are associated with risk of breast cancer in African American women: the Black Women’s Health StudyBreast Cancer Research and Treatment, 2010
- Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriersBreast Cancer Research and Treatment, 2009
- No evidence that GATA3 rs570613 SNP modifies breast cancer riskBreast Cancer Research and Treatment, 2008
- No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort studyBreast Cancer Research and Treatment, 2008
- Population-based estimates of the relation between breast cancer risk, tumor subtype, and family historyBreast Cancer Research and Treatment, 2008
- Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation CarriersAmerican Journal of Human Genetics, 2008
- Variation of Breast Cancer Risk Among BRCA1/2 CarriersJAMA, 2008
- Race, Breast Cancer Subtypes, and Survival in the Carolina Breast Cancer StudyJAMA, 2006
- A genome wide linkage search for breast cancer susceptibility genesGenes, Chromosomes and Cancer, 2006
- Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancerInternational Journal of Cancer, 2002