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Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome.
Hitchins MP, Vogelaar IP, Brennan K, Haraldsdottir S, Zhou N, Martin B, Alvarez R, Yuan X, Kim S, Guindi M, Hendifar AE, Kalady MF, DeVecchio J, Church JM, de la Chapelle A, Hampel H, Pearlman R, Christensen M, Snyder C, Lanspa SJ, Haile RW, Lynch HT. Hitchins MP, et al. BMJ Open Gastroenterol. 2019 May 28;6(1):e000299. doi: 10.1136/bmjgast-2019-000299. eCollection 2019. BMJ Open Gastroenterol. 2019. PMID: 31275589 Free PMC article.
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
Kwok CT, Vogelaar IP, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Rapkins RW, Ward RL, Chun N, Ford JM, Ladabaum U, McKinnon WC, Greenblatt MS, Hitchins MP. Kwok CT, et al. Among authors: hitchins mp. Eur J Hum Genet. 2014 May;22(5):617-24. doi: 10.1038/ejhg.2013.200. Epub 2013 Oct 2. Eur J Hum Genet. 2014. PMID: 24084575 Free PMC article.
Milestones of Lynch syndrome: 1895-2015.
Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Lynch HT, et al. Among authors: hitchins mp. Nat Rev Cancer. 2015 Mar;15(3):181-94. doi: 10.1038/nrc3878. Epub 2015 Feb 12. Nat Rev Cancer. 2015. PMID: 25673086 Review.
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. Nat Commun. 2017 May 3;8:14755. doi: 10.1038/ncomms14755. Nat Commun. 2017. PMID: 28466842 Free PMC article.
Pancreatic cancer 'mismatch' in Lynch syndrome.
Hendifar AE, Larson BK, Rojansky R, Guan M, Gong J, Placencio V, Tuli R, Hitchins M. Hendifar AE, et al. BMJ Open Gastroenterol. 2019 Mar 22;6(1):e000274. doi: 10.1136/bmjgast-2019-000274. eCollection 2019. BMJ Open Gastroenterol. 2019. PMID: 31275582 Free PMC article.
81 results