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Updated: Aug 1, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Abstract:
A retrospective analysis of data from the Mayo Clinic's Tapestry trial shows that whole-exome sequencing is an effective tool to identify people with hereditary breast and ovarian cancer syndrome and Lynch syndrome. The study also revealed that nearly 40% of these people, despite their cancer risk, would not qualify for preventive screening under current National Comprehensive Cancer Network guidelines.
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