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Genetic risk assessment for breast and gynecological malignancies

Profato, Jessica L.a; Arun, Banu K.a,b

Current Opinion in Obstetrics and Gynecology: February 2015 - Volume 27 - Issue 1 - p 1–5
doi: 10.1097/GCO.0000000000000142
CANCER GENETICS: Edited by Allison W. Kurian

Purpose of review Breast cancer and gynecological cancers impact a significant portion of women each year. Identifying women at high risk is essential for implementation of screening and risk reduction recommendations. Risk assessment for these cancers involves an evaluation of many factors. This review discusses an overview of hereditary breast and gynecological cancers and the process of a cancer genetic risk assessment.

Recent findings Risk assessment models for breast cancer should be used with caution, especially in populations in which they are not validated. Additionally, the BRCAPRO model may underestimate the likelihood of BRCA mutations in certain populations.

The utilization of next-generation sequencing panels is increasing. Benefits and limitations of panel testing are described in the literature. There are currently no guidelines for the use of panel testing; however, some reports of institutional experiences and recommendations are available.

Summary Cancer genetic risk assessment is complex, and models developed to estimate risk may not apply to all populations. Identifying genetic factors related to cancer risk is also becoming increasingly complex with the clinical implementation of panel testing. This testing approach should be critically evaluated by healthcare providers. Further research is needed to create evidence-based guidelines for panel testing and management recommendations for moderately penetrant genes.

aDepartment of Clinical Cancer Genetics

bDepartment of Breast Medical Oncology, UT M.D. Anderson Cancer Center, Houston, Texas, USA

Correspondence to Banu K. Arun, MD, 1515 Holcombe Boulevard Unit 1354, Houston, TX 77030, USA. Tel: +1 713 745 7391; fax: +1 713 563 0909; e-mail:

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