Hereditary breast cancer: an update on risk assessment and genetic testing in 2015

Am J Obstet Gynecol. 2015 Aug;213(2):161-5. doi: 10.1016/j.ajog.2015.03.003. Epub 2015 Mar 3.

Abstract

The last 5 years have brought significant innovation and advancement in the genetics of breast cancer. This clinical opinion aims to summarize and update current approaches to the care of women at risk for a hereditary predisposition to breast cancer. Implications of the BRCA mutation and several other hereditary syndromes will be discussed. Risk assessment and criteria for referral to cancer genetic professionals as well as high-risk screening and prophylactic options will be reviewed. Finally, the newly available genetic cancer panels and implications of mutations in some of these lesser known genes will be discussed. As the field of cancer genetics continues to evolve, the education of medical students, residents, and faculty will be paramount to identify appropriate candidates for genetic counseling and testing in conjunction with cancer genetic professionals.

Keywords: BRCA mutation; breast cancer; genetics; panel testing.

Publication types

  • Review

MeSH terms

  • Early Detection of Cancer
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / prevention & control
  • Hereditary Breast and Ovarian Cancer Syndrome / diagnosis*
  • Hereditary Breast and Ovarian Cancer Syndrome / genetics
  • Hereditary Breast and Ovarian Cancer Syndrome / prevention & control
  • Humans
  • Li-Fraumeni Syndrome / diagnosis
  • Li-Fraumeni Syndrome / genetics
  • Li-Fraumeni Syndrome / prevention & control
  • Mastectomy
  • Ovariectomy
  • Peutz-Jeghers Syndrome / diagnosis
  • Peutz-Jeghers Syndrome / genetics
  • Peutz-Jeghers Syndrome / prevention & control
  • Practice Guidelines as Topic*
  • Prophylactic Surgical Procedures
  • Referral and Consultation
  • Risk Assessment / methods