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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
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A. Hampel H, et al. Among authors: de la chapelle a. N Engl J Med. 2005 May 5;352(18):1851-60. doi: 10.1056/NEJMoa043146. N Engl J Med. 2005. PMID: 15872200 Free article.
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A. Hampel H, et al. Among authors: la jeunesse j, de la chapelle a. Cancer Res. 2006 Aug 1;66(15):7810-7. doi: 10.1158/0008-5472.CAN-06-1114. Cancer Res. 2006. PMID: 16885385
Origins and prevalence of the American Founder Mutation of MSH2.
Clendenning M, Baze ME, Sun S, Walsh K, Liyanarachchi S, Fix D, Schunemann V, Comeras I, Deacon M, Lynch JF, Gong G, Thomas BC, Thibodeau SN, Lynch HT, Hampel H, de la Chapelle A. Clendenning M, et al. Among authors: de la chapelle a. Cancer Res. 2008 Apr 1;68(7):2145-53. doi: 10.1158/0008-5472.CAN-07-6599. Cancer Res. 2008. PMID: 18381419
668 results