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

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

M J Hall  1 , E I Obeid  2 , S C Schwartz  3 , G Mantia-Smaldone  4 , A D Forman  2 , M B Daly  2
Affiliations
Review

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

M J Hall et al. Gynecol Oncol. 2016 Mar.

Abstract

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.

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Conflict of interest statement

Conflicts of interest

Drs. Hall and Obeid participate in collaborative research with Myriad Genetics. Dr. Hall participates in collaborative research with Invitae. Neither physician receives direct research funding or salary support from these companies.

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