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Updated: Sep 28, 2025

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
Published on: July 28, 2010
Patchwork Cancer Predisposition
L Alexander Liggett1,2, Vijay G Sankaran1,2,3
1Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts.
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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