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A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
Biswas K, Couillard M, Cavallone L, Burkett S, Stauffer S, Martin BK, Southon E, Reid S, Plona TM, Baugher RN, Mellott SD, Pike KM, Albaugh ME, Maedler-Kron C, Hamel N, Tessarollo L, Marcus V, Foulkes WD, Sharan SK. Biswas K, et al. Among authors: foulkes wd. Cell Death Dis. 2021 Sep 6;12(9):838. doi: 10.1038/s41419-021-04130-8. Cell Death Dis. 2021. PMID: 34489406 Free PMC article.
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. Foulkes WD, et al. Am J Hum Genet. 2002 Dec;71(6):1395-412. doi: 10.1086/345075. Epub 2002 Nov 26. Am J Hum Genet. 2002. PMID: 12454801 Free PMC article.
Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Deschênes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Du Sart D, Chong G, Foulkes WD. Thiffault I, et al. Among authors: foulkes wd. Br J Cancer. 2004 Jan 26;90(2):483-91. doi: 10.1038/sj.bjc.6601424. Br J Cancer. 2004. PMID: 14735197 Free PMC article.
754 results