Patchwork Cancer Predisposition
Author(s) -
L. Alexander Liggett,
Vijay G. Sankaran
Publication year - 2022
Publication title -
cancer discovery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.795
H-Index - 163
eISSN - 2159-8290
pISSN - 2159-8274
DOI - 10.1158/2159-8290.cd-22-0025
Subject(s) - genetic predisposition , cancer , germline , genetics , biology , allele , germline mutation , mosaic , mutation , computational biology , gene , history , archaeology
Summary: Inherited genetic variation is increasingly identified as an important predisposing factor to a variety of cancers. In this issue of Cancer Discovery, Pareja and colleagues developed a method of reliably detecting mosaic cancer susceptibility mutations in patients who have been sequenced as part of the MSK-IMPACT tumor profiling platform. This led to the identification of a number of mosaic mutations in cancer susceptibility alleles that are generally found in the germline, suggesting that many predisposition variants may be missed through conventional testing. See related article by Pareja et al., p. 949 (6).
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