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Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Haraldsdottir S, Rafnar T, Frankel WL, Einarsdottir S, Sigurdsson A, Hampel H, Snaebjornsson P, Masson G, Weng D, Arngrimsson R, Kehr B, Yilmaz A, Haraldsson S, Sulem P, Stefansson T, Shields PG, Sigurdsson F, Bekaii-Saab T, Moller PH, Steinarsdottir M, Alexiusdottir K, Hitchins M, Pritchard CC, de la Chapelle A, Jonasson JG, Goldberg RM, Stefansson K. Haraldsdottir S, et al. Among authors: de la chapelle a. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755. Nat Commun. 2017. PMID: 28466842 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.
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Hampel H, Pearlman R, Beightol M, Zhao W, Jones D, Frankel WL, Goodfellow PJ, Yilmaz A, Miller K, Bacher J, Jacobson A, Paskett E, Shields PG, Goldberg RM, de la Chapelle A, Shirts BH, Pritchard CC; Ohio Colorectal Cancer Prevention Initiative Study Group. Hampel H, et al. Among authors: de la chapelle a. JAMA Oncol. 2018 Jun 1;4(6):806-813. doi: 10.1001/jamaoncol.2018.0104. JAMA Oncol. 2018. PMID: 29596542 Free PMC article.
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.
Pearlman R, Haraldsdottir S, de la Chapelle A, Jonasson JG, Liyanarachchi S, Frankel WL, Rafnar T, Stefansson K, Pritchard CC, Hampel H. Pearlman R, et al. Among authors: de la chapelle a. J Med Genet. 2019 Jul;56(7):462-470. doi: 10.1136/jmedgenet-2018-105698. Epub 2019 Mar 15. J Med Genet. 2019. PMID: 30877237 Free PMC article.
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.
668 results