Cancers, Vol. 15, Pages 4925: DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands
Cancers, Vol. 15, Pages 4925: DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands
Cancers doi: 10.3390/cancers15204925
Authors:
Romy Walker
Khalid Mahmood
Julia Como
Mark Clendenning
Jihoon E. Joo
Peter Georgeson
Sharelle Joseland
Susan G. Preston
Bernard J. Pope
James M. Chan
Rachel Austin
Jasmina Bojadzieva
Ainsley Campbell
Emma Edwards
Margaret Gleeson
Annabel Goodwin
Marion T. Harris
Emilia Ip
Judy Kirk
Julia Mansour
Helen Mar Fan
Cassandra Nichols
Nicholas Pachter
Abiramy Ragunathan
Allan Spigelman
Rachel Susman
Michael Christie
Mark A. Jenkins
Rish K. Pai
Christophe Rosty
Finlay A. Macrae
Ingrid M. Winship
Daniel D. Buchanan
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. Lynch syndrome specific tumor features were evaluated for their ability to support the ACMG/InSiGHT framework in classifying variants of uncertain clinical significance (VUS) in the MMR genes. Twenty-eight CRC or EC tumors from 25 VUS carriers (6xMLH1, 9xMSH2, 6xMSH6, 4xPMS2), underwent targeted tumor sequencing for the presence of microsatellite instability/MMR-deficiency (MSI-H/dMMR) status and identification of a somatic MMR mutation (second hit). Immunohistochemical testing for the presence of dMMR crypts/glands in normal ti...
Source: Cancers - Category: Cancer & Oncology Authors: Romy Walker Khalid Mahmood Julia Como Mark Clendenning Jihoon E. Joo Peter Georgeson Sharelle Joseland Susan G. Preston Bernard J. Pope James M. Chan Rachel Austin Jasmina Bojadzieva Ainsley Campbell Emma Edwards Margaret Gleeson Annabel Goodwin Marion T. Tags: Article Source Type: research
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