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Items: 1 to 20 of 168

1.

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Crépin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP.

Hum Mutat. 2012 Jan;33(1):180-8. doi: 10.1002/humu.21617. Epub 2011 Oct 31.

PMID:
21953887
2.

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

Goel A, Nguyen TP, Leung HC, Nagasaka T, Rhees J, Hotchkiss E, Arnold M, Banerji P, Koi M, Kwok CT, Packham D, Lipton L, Boland CR, Ward RL, Hitchins MP.

Int J Cancer. 2011 Feb 15;128(4):869-78. doi: 10.1002/ijc.25422.

3.

MLH1 methylation screening is effective in identifying epimutation carriers.

Pineda M, Mur P, Iniesta MD, Borràs E, Campos O, Vargas G, Iglesias S, Fernández A, Gruber SB, Lázaro C, Brunet J, Navarro M, Blanco I, Capellá G.

Eur J Hum Genet. 2012 Dec;20(12):1256-64. doi: 10.1038/ejhg.2012.136. Epub 2012 Jul 4.

4.

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.

Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL.

J Med Genet. 2015 Jul;52(7):498-502. doi: 10.1136/jmedgenet-2015-103076. Epub 2015 Apr 23.

PMID:
25908759
5.

Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility.

Hitchins MP.

Adv Genet. 2010;70:201-43. doi: 10.1016/B978-0-12-380866-0.60008-3. Review.

PMID:
20920750
6.

Epigenetic mechanisms in the pathogenesis of Lynch syndrome.

Peltomäki P.

Clin Genet. 2014 May;85(5):403-12. doi: 10.1111/cge.12349. Epub 2014 Feb 17. Review.

PMID:
24443998
7.

Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

Berginc G, Bracko M, Ravnik-Glavac M, Glavac D.

Fam Cancer. 2009;8(4):421-9. doi: 10.1007/s10689-009-9258-4. Epub 2009 Jun 13.

PMID:
19526325
8.

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A.

J Natl Cancer Inst. 2007 Feb 21;99(4):291-9.

PMID:
17312306
9.

BRAF mutation analysis is a valid tool to implement in Lynch syndrome diagnosis in patients classified according to the Bethesda guidelines.

Molinari F, Signoroni S, Lampis A, Bertan C, Perrone F, Sala P, Mondini P, Crippa S, Bertario L, Frattini M.

Tumori. 2014 May-Jun;100(3):315-20. doi: 10.1700/1578.17214.

PMID:
25076244
10.

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Mueller J, Gazzoli I, Bandipalliam P, Garber JE, Syngal S, Kolodner RD.

Cancer Res. 2009 Sep 1;69(17):7053-61. doi: 10.1158/0008-5472.CAN-09-0358. Epub 2009 Aug 18.

11.

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Gargiulo S, Torrini M, Ollila S, Nasti S, Pastorino L, Cusano R, Bonelli L, Battistuzzi L, Mastracci L, Bruno W, Savarino V, Sciallero S, Borgonovo G, Nyström M, Bianchi-Scarrà G, Mareni C, Ghiorzo P.

Fam Cancer. 2009;8(4):547-53. doi: 10.1007/s10689-009-9285-1.

PMID:
19728162
12.

Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.

Hitchins MP.

Fam Cancer. 2016 Jul;15(3):413-22. doi: 10.1007/s10689-016-9887-3. Review.

PMID:
26886015
13.

Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation.

Bouzourene H, Hutter P, Losi L, Martin P, Benhattar J.

Fam Cancer. 2010 Jun;9(2):167-72. doi: 10.1007/s10689-009-9302-4.

PMID:
19949877
14.

Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.

Cini G, Carnevali I, Quaia M, Chiaravalli AM, Sala P, Giacomini E, Maestro R, Tibiletti MG, Viel A.

Carcinogenesis. 2015 Apr;36(4):452-8. doi: 10.1093/carcin/bgv015. Epub 2015 Mar 5.

PMID:
25742745
15.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.

Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25.

PMID:
26116798
16.

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.

Crucianelli F, Tricarico R, Turchetti D, Gorelli G, Gensini F, Sestini R, Giunti L, Pedroni M, Ponz de Leon M, Civitelli S, Genuardi M.

Epigenetics. 2014 Oct;9(10):1431-8. doi: 10.4161/15592294.2014.970080.

17.

Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer.

Loughrey MB, Waring PM, Tan A, Trivett M, Kovalenko S, Beshay V, Young MA, McArthur G, Boussioutas A, Dobrovic A.

Fam Cancer. 2007;6(3):301-10. Epub 2007 Apr 24.

PMID:
17453358
18.

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.

Eur J Hum Genet. 2014 May;22(5):617-24. doi: 10.1038/ejhg.2013.200. Epub 2013 Oct 2.

19.

Microsatellite instability: an update.

Yamamoto H, Imai K.

Arch Toxicol. 2015 Jun;89(6):899-921. doi: 10.1007/s00204-015-1474-0. Epub 2015 Feb 22. Review.

PMID:
25701956
20.

BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer.

Capper D, Voigt A, Bozukova G, Ahadova A, Kickingereder P, von Deimling A, von Knebel Doeberitz M, Kloor M.

Int J Cancer. 2013 Oct 1;133(7):1624-30. doi: 10.1002/ijc.28183. Epub 2013 Apr 25.

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