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Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. Nakagawa H, et al. Among authors: de la chapelle a. Cancer Res. 2004 Jul 15;64(14):4721-7. doi: 10.1158/0008-5472.CAN-03-2879. Cancer Res. 2004. PMID: 15256438
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. Senter L, et al. Among authors: de la chapelle a. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. Gastroenterology. 2008. PMID: 18602922 Free PMC article.
Prostate cancer incidence in males with Lynch syndrome.
Haraldsdottir S, Hampel H, Wei L, Wu C, Frankel W, Bekaii-Saab T, de la Chapelle A, Goldberg RM. Haraldsdottir S, et al. Among authors: de la chapelle a. Genet Med. 2014 Jul;16(7):553-7. doi: 10.1038/gim.2013.193. Epub 2014 Jan 16. Genet Med. 2014. PMID: 24434690 Free PMC article.
Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes.
Cohen SA, Turner EH, Beightol MB, Jacobson A, Gooley TA, Salipante SJ, Haraldsdottir S, Smith C, Scroggins S, Tait JF, Grady WM, Lin EH, Cohn DE, Goodfellow PJ, Arnold MW, de la Chapelle A, Pearlman R, Hampel H, Pritchard CC. Cohen SA, et al. Among authors: de la chapelle a. Gastroenterology. 2016 Sep;151(3):440-447.e1. doi: 10.1053/j.gastro.2016.06.004. Epub 2016 Jun 11. Gastroenterology. 2016. PMID: 27302833 Free PMC article.
668 results