NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017

Abstract

The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations for genetic testing and counseling for hereditary cancer syndromes and risk management recommendations for patients who are diagnosed with a syndrome. Guidelines focus on syndromes associated with an increased risk of breast and/or ovarian cancer. The NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel meets at least annually to review comments from reviewers within their institutions, examine relevant new data from publications and abstracts, and reevaluate and update their recommendations. The NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding risk management for carriers of moderately penetrant genetic mutations associated with breast and/or ovarian cancer.

Integrating surgery and genetic testing for the modern surgeon

“…Moreover, nipple-sparing mastectomy has not shown any additional cancer risk in this patient population (44), but patients require lifelong screening and should be counseled accordingly prior to surgery (40). Bilateral salpingo-oophorectomy reduces the risk of ovarian cancer by 83% and combined with bilateral mastectomies reduces the risk of breast cancer by 95% (43,45).…”

Ataxia–Telangiectasia Gene (ATM) Mutation Heterozygosity in Breast Cancer: A Narrative Review

“…Apart from guidelines published by the U.S. National Comprehensive Cancer Network, which suggest high-risk breast cancer screening for women with a pathogenic ATM variant 41 , most clinical practice guidelines lack recommendations specific to this population. Further, the cut-offs for high-risk breast cancer screening vary around the world, ranging from 20% to 30% [41][42][43][44][45] .…”

“…Further, the cut-offs for high-risk breast cancer screening vary around the world, ranging from 20% to 30% [41][42][43][44][45] . In Ontario, for example, a high-risk screening program includes women with highly penetrant pathogenic gene variants (for example, BRCA1 and BRCA2) and those who are at 25% or greater lifetime risk of developing breast cancer 42 .…”

A Lynch-Like Presentation of Birt-Hogg-Dube Syndrome (BHDS)

“…This can be especially useful for testing in cases that lack distinguishing clinical characteristics. Thus, the National Comprehensive Cancer Network (NCCN) currently endorses the use of multi-gene panel testing as an appropriate test for certain patients in the context of pre-and post-test guidance from a genetics professional [8].…”