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Clinical Quality in Cancer Research: Strategy to Assess Data Integrity of Germline Variants Inferred from Tumor-Only Testing Sequencing Data.

Pharmaceutical medicine - 1 Jul 2021

Ménard Timothé, Rolo Donato, Koneswarakantha Björn

Abstract excerpt

In the majority of cancers, pathogenic variants are only found at the level of the tumor; however, an unusual number of cancers and/or diagnoses at an early age in a single family may suggest a genetic predisposition. Predisposition plays a major role in about 5-10% of adult cancers and in certain childhood tumors. As access to genomic testing for cancer patients continues to expand, the identification of...

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PMID: 34436760
DOI: 10.1007/s40290-021-00399-4

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