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Hot Topic: Should all Women with Breast Cancer Undergo Genetic Testing?

  • Marie E. WoodEmail author
  • Isabelle Bedrosian
Topics in Breast Cancer (K Hunt, Section Editor)
  • 14 Downloads
Part of the following topical collections:
  1. Topical Collection on Hot Topics in Breast Cancer

Abstract

Purpose of Review

Panel testing for germline mutations in cancer patients has advanced rapidly in recent years. In breast cancer, these advances have raised questions about the indications for testing, with some groups advocating testing of all patients with breast cancer.

Recent Findings

Studies uniformly demonstrate that expanded scope of genetic testing will result in identification of more women with germline mutations. However, many challenges remain in interpretation of such broad panel testing, including limited information about the risks of second cancers conferred by most of these germline mutations and the high rates of VUS that risk causing anxiety and driving decisions towards unwarranted CPM. These challenges limit the utility of panel testing and are further compounded by lack of sufficient genetic counseling support to facilitate discussion with patients around these complex issues.

Summary

For most women, the benefits of broad panel testing are limited. A tailored approach to genetic testing, based on detailed family history and tumor phenotype, remains the preferred approach.

Keywords

Breast cancer Genetics Genetic testing Testing guidelines 

Notes

Compliance with Ethics Guidelines

Conflict of Interest

Marie Wood and Isabelle Bedrosian declare no conflicts of interest relevant to this manuscript.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.University of VermontBurlingtonUSA
  2. 2.University of Texas, MD Anderson Cancer CenterHoustonUSA

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