Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond

Gynecol Oncol. 2016 Mar;140(3):565-74. doi: 10.1016/j.ygyno.2016.01.019. Epub 2016 Jan 23.


Obstetrician/gynecologists and gynecologic oncologists serve an integral role in the care of women at increased hereditary risk of cancer. Their contribution includes initial identification of high risk patients, screening procedures like bimanual exam, trans-vaginal ultrasound and endometrial biopsy, prophylaxis via TAH and/or BSO, and chemoprevention. Further, gynecologists also serve a central role in the management of the secondary repercussions of efforts to mitigate increased cancer risks, including vasomotor symptoms, sexual function, bone health, cardiovascular disease, and mental health. The past several years has seen multiple new high and moderate penetrance genes introduced into the clinical care of women at increased risk of gynecologic malignancy. Awareness of these new genes and the availability of new multi-gene panel tests is critical for providers on the front-line of women's health.

Keywords: BRCA1/2; Genetic risk; Lynch syndrome; Panel tests.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Breast Neoplasms / genetics*
  • Chemoprevention
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Early Detection of Cancer
  • Female
  • Fertility Preservation
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Genital Neoplasms, Female / diagnosis
  • Genital Neoplasms, Female / genetics*
  • Genital Neoplasms, Female / prevention & control
  • Humans
  • Middle Aged
  • Mutation
  • Penetrance
  • Prophylactic Surgical Procedures
  • Reproductive Health
  • Risk Assessment