Clinical implications of low-penetrance breast cancer susceptibility alleles

Curr Oncol Rep. 2009 Jan;11(1):8-14. doi: 10.1007/s11912-009-0003-9.

Abstract

Our understanding of breast cancer genetics is evolving beyond deleterious mutations in BRCA1 and BRCA2. In the past several years, several low- and moderate-risk breast cancer susceptibility alleles have been identified that have a relative risk for breast cancer of < or = 2. The availability of new techniques such as genome-wide association studies ensures that more low-risk alleles will be identified. This article reviews our current understanding of low-penetrance genes, with a specific focus on their clinical implications.

Publication types

  • Review

MeSH terms

  • Aged
  • Alleles*
  • Apoptosis Regulatory Proteins
  • BRCA1 Protein / metabolism
  • BRCA2 Protein / metabolism
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / genetics*
  • Checkpoint Kinase 2
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Genome, Human
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Protein Serine-Threonine Kinases / genetics
  • Risk

Substances

  • Apoptosis Regulatory Proteins
  • BLID protein, human
  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein Serine-Threonine Kinases