Hot Topic: Should all Women with Breast Cancer Undergo Genetic Testing?
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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.
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.
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.
KeywordsBreast cancer Genetics Genetic testing Testing guidelines
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.
Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
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