Ontology highlight
ABSTRACT:
SUBMITTER: Georgeson P
PROVIDER: S-EPMC9170691 | biostudies-literature | 2022 Jun
REPOSITORIES: biostudies-literature
Georgeson Peter P Harrison Tabitha A TA Pope Bernard J BJ Zaidi Syed H SH Qu Conghui C Steinfelder Robert S RS Lin Yi Y Joo Jihoon E JE Mahmood Khalid K Clendenning Mark M Walker Romy R Amitay Efrat L EL Berndt Sonja I SI Brenner Hermann H Campbell Peter T PT Cao Yin Y Chan Andrew T AT Chang-Claude Jenny J Doheny Kimberly F KF Drew David A DA Figueiredo Jane C JC French Amy J AJ Gallinger Steven S Giannakis Marios M Giles Graham G GG Gsur Andrea A Gunter Marc J MJ Hoffmeister Michael M Hsu Li L Huang Wen-Yi WY Limburg Paul P Manson JoAnn E JE Moreno Victor V Nassir Rami R Nowak Jonathan A JA Obón-Santacana Mireia M Ogino Shuji S Phipps Amanda I AI Potter John D JD Schoen Robert E RE Sun Wei W Toland Amanda E AE Trinh Quang M QM Ugai Tomotaka T Macrae Finlay A FA Rosty Christophe C Hudson Thomas J TJ Jenkins Mark A MA Thibodeau Stephen N SN Winship Ingrid M IM Peters Ulrike U Buchanan Daniel D DD
Nature communications 20220606 1
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 classifier identifies all biallelic MUTYH carriers and all known non-carriers in an independ ...[more]