A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing

A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing

Abstract Hereditary non-polyposis colorectal cancer, now known as Lynch syndrome (LS) is one of the most common cancer predisposition syndromes and is caused by germline pathogenic variants (GPVs) in DNA mismatch repair (MMR) genes. A common founder GPV in PMS2 in the Canadian Inuit population, NM_0...

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Bibliographic Details
Main Authors: Kajal Biswas, Martin Couillard, Luca Cavallone, Sandra Burkett, Stacey Stauffer, Betty K. Martin, Eileen Southon, Susan Reid, Teri M. Plona, Ryan N. Baugher, Stephanie D. Mellott, Kristen M. Pike, Mary E. Albaugh, Chelsea Maedler-Kron, Nancy Hamel, Lino Tessarollo, Victoria Marcus, William D. Foulkes, Shyam K. Sharan
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:Cell Death and Disease
Online Access:https://doi.org/10.1038/s41419-021-04130-8

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https://doi.org/10.1038/s41419-021-04130-8

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