Genome-Wide Association Studies and the Clinic: A Focus on Breast Cancer

2014/02/01 by Amélie S Véron, Sophie Blein, David G. Cox · 1 citation
Biochemistry, Genetics and Molecular Biology · #BRCA gene mutations in cancer #Genetic Associations and Epidemiology #Cancer Genomics and Diagnostics

paper · doi:10.2217/bmm.13.121

openalex publication_date 2014/02/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22

Abstract

Breast cancer is the most frequently diagnosed cancer among women worldwide, and has long been considered to be a genetic disease. A wide range of genetic variants, both rare mutations and more common variants, have been shown to influence breast cancer risk. In particular, recent studies have identified a number of common genetic variants, or single nucleotide polymorphisms, that are associated with breast cancer risk. In this review, we will briefly present the genetic epidemiology of breast cancer, genome-wide association study technology and how this technology may influence breast cancer screening in the clinic.

Citations

• Screening for Breast Cancer: Recommendations and Rationale
• The randomized trials of breast cancer screening: what have we learned?
• Cancer Risks and Mortality in Heterozygous ATM Mutation Carriers

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