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The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.

A E Bunnell1, C A Garby1, E J Pearson1

  • 1Baylor Charles A. Sammons Cancer Center, Baylor University Medical Center, 3410 Worth St, Dallas, TX, 75248, USA.

Journal of Genetic Counseling
|June 10, 2016
PubMed
Summary

Hereditary cancer gene panels, including BRCA1/BRCA2, offer clinical utility. Testing these panels, even with genes of unknown penetrance, can alter medical management for hereditary breast and ovarian cancer patients.

Keywords:
BRCA testingBreast cancerCancer gene panelNext-generation sequencingOvarian cancer

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Area of Science:

  • Oncology
  • Genetics
  • Medical Management

Background:

  • The 2013 Supreme Court ruling on BRCA1/BRCA2 patenting allowed their inclusion in hereditary cancer gene panels for first-tier testing.
  • Questions persist regarding the clinical utility and management implications of these panels, especially with genes of unknown to moderate penetrance.

Purpose of the Study:

  • To evaluate the impact of hereditary cancer gene panel testing on clinical practice and medical management.
  • To assess the clinical utility of panels incorporating genes beyond BRCA1/BRCA2.

Main Methods:

  • Retrospective review of 136 patients who underwent commercial hereditary cancer panel testing between July 1, 2013, and May 23, 2014.
  • Testing indications included personal or family history of breast and/or ovarian cancer.
  • Analysis of mutation detection rates and subsequent changes in medical management.

Main Results:

  • Twelve out of 136 patients (8.8%) had pathogenic or likely pathogenic mutations in genes including BRCA1/BRCA2, TP53, CDH1, ATM, CHEK2, NBN, and PALB2.
  • All positive patients met National Comprehensive Cancer Network (NCCN) guidelines for hereditary breast and ovarian cancer genetic testing.
  • Medical management changes occurred in 58% of positive patients, with 43% of these changes attributed to non-BRCA1/BRCA2 gene mutations.

Conclusions:

  • Hereditary cancer gene panels, including those with genes of unknown to moderate penetrance, demonstrate significant clinical utility.
  • Panel testing can lead to actionable changes in medical management for patients with hereditary breast and ovarian cancer risk.
  • The inclusion of multiple genes in panel testing enhances diagnostic yield and informs patient care.