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This study may present the largest retrospective analysis to date of deidentified real-world data from patients diagnosed with advanced cancer with tumor/normal matched sequencing data and the prevalence of pathogenic or likely pathogenic germline variants in cancer types lacking hereditary cancer testing guidelines. The findings suggest there may be clinical implications for patients and their at-risk family members in cancers for which germline assessment primarily based on the cancer diagnosis is rarely obtained.
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Timothy A. Yap
The University of Texas MD Anderson Cancer Center
Arya Ashok
Jessica Stoll
JAMA Network Open
Dana-Farber Cancer Institute
The University of Texas MD Anderson Cancer Center
Tempus Labs (United States)
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Yap et al. (Fri,) studied this question.
synapsesocial.com/papers/69da816585037e71b2684091 — DOI: https://doi.org/10.1001/jamanetworkopen.2022.13070