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Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment

Kurian, Allison W.a,b; Kingham, Kerry E.a,c; Ford, James M.a,c,d

Current Opinion in Obstetrics and Gynecology: February 2015 - Volume 27 - Issue 1 - p 23–33
doi: 10.1097/GCO.0000000000000141
CANCER GENETICS: Edited by Allison W. Kurian

Purpose of review To summarize advances in next-generation sequencing and their application to breast and gynecologic cancer risk assessment.

Recent findings Next-generation sequencing panels of 6–112 cancer-associated genes are increasingly used in patient care. Studies report a 4–16% prevalence of mutations other than BRCA1/2 among patients who meet evidence-based practice guidelines for BRCA1/2 testing, with a high rate (15–88%) of uninterpretable variants of uncertain significance. Despite uncertainty about results interpretation and communication, there is early evidence of a benefit from multiple-gene sequencing panels for appropriately selected patients.

Summary Multiple-gene sequencing panels appear highly promising for the assessment of breast and gynecologic cancer risk, and they may usefully be administered in the context of cancer genetics expertise and/or clinical research protocols.

aDepartments of Medicine

bHealth Research and Policy


dGenetics, Stanford University School of Medicine, Stanford, California, USA

Correspondence to Allison W. Kurian, MD, MSc, Assistant Professor of Medicine and of Health Research and Policy, Stanford University School of Medicine, HRP Redwood Building, Room T254A, Stanford, CA 94305-5405, USA. Tel: +1 650 724 7375; fax: +1 650 725 6951; e-mail:

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