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

• Published in: Cell Death & Disease
• Main Authors: Biswas, Kajal, Couillard, Martin, Cavallone, Luca, Burkett, Sandra, Stauffer, Stacey, Martin, Betty K., Southon, Eileen, Reid, Susan, Plona, Teri M., Baugher, Ryan N., Mellott, Stephanie D., Pike, Kristen M., Albaugh, Mary E., Maedler-Kron, Chelsea, Hamel, Nancy, Tessarollo, Lino, Marcus, Victoria, Foulkes, William D., Sharan, Shyam K.
• Other Authors: U.S. Department of Health & Human Services | National Institutes of Health
• Format: Article in Journal/Newspaper
• Language: English
• Published: Springer Science and Business Media LLC 2021
• Subjects: Cancer Research; Cell Biology; Cellular and Molecular Neuroscience; Immunology; Lynch; inuit; inuits
• Online Access: http://dx.doi.org/10.1038/s41419-021-04130-8; https://www.nature.com/articles/s41419-021-04130-8.pdf; https://www.nature.com/articles/s41419-021-04130-8

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...