Article
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
Cell death & disease - 6 Sept 2021
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
Abstract excerpt
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: c.2002A>G, leads to a benign missense (p.I668V) but also acts as a de novo splice site that creates a 5 bp deletion...
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