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.
• Format: Text
• Language: English
• Published: Nature Publishing Group UK 2021
• Subjects: Article; Lynch; inuit; inuits
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421400/; http://www.ncbi.nlm.nih.gov/pubmed/34489406; https://doi.org/10.1038/s41419-021-04130-8

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_000535.5:...