Article
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Nature communications - 6 Jun 2022
Georgeson Peter, Harrison Tabitha A, Pope Bernard J, Zaidi Syed H, Qu Conghui, Steinfelder Robert S, Lin Yi, Joo Jihoon E, Mahmood Khalid, Clendenning Mark, Walker Romy, Amitay Efrat L, Berndt Sonja I, Brenner Hermann, Campbell Peter T, Cao Yin, Chan Andrew T, Chang-Claude Jenny, Doheny Kimberly F, Drew David A, Figueiredo Jane C, French Amy J, Gallinger Steven, Giannakis Marios, Giles Graham G, Gsur Andrea, Gunter Marc J, Hoffmeister Michael, Hsu Li, Huang Wen-Yi, Limburg Paul, Manson JoAnn E, Moreno Victor, Nassir Rami, Nowak Jonathan A, Obón-Santacana Mireia, Ogino Shuji, Phipps Amanda I, Potter John D, Schoen Robert E, Sun Wei, Toland Amanda E, Trinh Quang M, Ugai Tomotaka, Macrae Finlay A, Rosty Christophe, Hudson Thomas J, Jenkins Mark A, Thibodeau Stephen N, Winship Ingrid M, Peters Ulrike, Buchanan Daniel D
Abstract excerpt
Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal cancer. We test 5649 colorectal cancers to evaluate the discriminatory potential of a tumor mutational signature specific to MUTYH for identifying biallelic carriers and classifying variants of uncertain clinical significance (VUS). Using a tumor and matched germline targeted multi-gene panel approach, our...
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