Toward Concurrent Testing for Somatic and Germline Variants in Cancer Patients

Mandelker, Diana

doi:10.1158/1078-0432.ccr-16-1043

Cited by 4 publications

(1 citation statement)

References 10 publications

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“…The parallel tumor-normal matched approach allows for a direct differentiation of somatic versus germline findings and the potential for the return of germline-specific genetic test results to the patient (Figure 1). 10,12,13 The advantage of a tumor-only approach is efficiency, because germline DNA is not directly interrogated, and the necessary informed consents, privacy protections, and pretesting/posttesting genetic counseling inherent to traditional germline genetic testing are not routinely needed. 14,15 For the identification of therapeutically actionable genetic mutations, knowledge of the origin of the mutation as somatic versus germline is not always necessary.…”

Section: Tumor-only Versus Parallel Tumor-normal Testingmentioning

confidence: 99%

The Future of Parallel Tumor and Germline Genetic Testing: Is There a Role for All Patients With Cancer?

Liu

Stadler

2021

Journal of the National Comprehensive Cancer Network

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Under the traditional paradigm of genetic testing in cancer, the role of germline testing was to assess for the inherited risk of cancer, whereas the role of tumor testing was to determine therapeutic selection. Parallel tumor-normal genetic testing uses simultaneous genetic testing of the tumor and normal tissue to identify mutations and allows their classification as either germline or somatic. The increasing adoption of parallel testing has revealed a greater number of germline findings in patients who otherwise would not have met clinical criteria for testing. This result has widespread implications for the screening and further testing of at-risk relatives and for gene discovery. It has also revealed the importance of germline testing in therapeutic actionability. Herein, we describe the pros and cons of tumor-only versus parallel tumor-normal testing and summarize the data on the prevalence of incidental actionable germline findings. Because germline testing in patients with cancer continues to expand, it is imperative that systems be in place for the proper interpretation, dissemination, and counseling for patients and at-risk relatives. We also review new therapeutic approvals with germline indications and highlight the increasing importance of germline testing in selecting therapies. Because recommendations for universal genetic testing are increasing in multiple cancer types and the number of approved therapies with germline indications is also increasing, a gradual transition toward parallel tumor-normal genetic testing in all patients with cancer is foreseeable.

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