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Items: 1 to 20 of 135

1.

Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

Mork ME, Rodriguez A, Taggart MW, Rodriguez-Bigas MA, Lynch PM, Bannon SA, You YN, Vilar E.

Fam Cancer. 2017 Jul;16(3):357-361. doi: 10.1007/s10689-016-9960-y.

2.

Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.

Rhees J, Arnold M, Boland CR.

Fam Cancer. 2014 Jun;13(2):219-25. doi: 10.1007/s10689-013-9688-x.

3.

A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.

Liu Q, Hesson LB, Nunez AC, Packham D, Williams R, Ward RL, Sloane MA.

Carcinogenesis. 2016 Jan;37(1):10-17. doi: 10.1093/carcin/bgv154. Epub 2015 Oct 24.

PMID:
26498247
4.

Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

Pérez-Cabornero L, Infante Sanz M, Velasco Sampedro E, Lastra Aras E, Acedo Becares A, Miner Pino C, Durán Domínguez M.

Cancer Prev Res (Phila). 2011 Oct;4(10):1556-62. doi: 10.1158/1940-6207.CAPR-11-0080. Epub 2011 Jul 26.

5.

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
6.

First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.

Ziada-Bouchaar H, Sifi K, Filali T, Hammada T, Satta D, Abadi N.

Fam Cancer. 2017 Jan;16(1):57-66. doi: 10.1007/s10689-016-9917-1.

PMID:
27468915
7.

Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.

Pérez-Cabornero L, Borrás Flores E, Infante Sanz M, Velasco Sampedro E, Acedo Becares A, Lastra Aras E, Cuevas González J, Pineda Riu M, Ramón y Cajal Asensio T, Capellá Munar G, Miner Pino C, Durán Domínguez M.

Cancer Prev Res (Phila). 2011 Oct;4(10):1546-55. doi: 10.1158/1940-6207.CAPR-11-0227. Epub 2011 Jul 21.

8.

Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome.

Alvarez K, Hurtado C, Hevia MA, Wielandt AM, de la Fuente M, Church J, Carvallo P, López-Köstner F.

Dis Colon Rectum. 2010 Apr;53(4):450-9. doi: 10.1007/DCR.0b013e3181d0c114.

PMID:
20305446
9.

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M.

Oncol Rep. 2016 Nov;36(5):2823-2835. doi: 10.3892/or.2016.5060. Epub 2016 Sep 1.

10.

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E.

Hum Mutat. 2009 Feb;30(2):197-203. doi: 10.1002/humu.20942.

PMID:
19177550
11.

Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.

Ponti G, Manfredini M, Tomasi A, Pellacani G.

Gene. 2016 Sep 10;589(2):127-32. doi: 10.1016/j.gene.2015.06.078. Epub 2015 Jul 2. Review.

PMID:
26143115
12.

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

Zighelboim I, Powell MA, Babb SA, Whelan AJ, Schmidt AP, Clendenning M, Senter L, Thibodeau SN, de la Chapelle A, Goodfellow PJ.

Fam Cancer. 2009;8(4):501-4. doi: 10.1007/s10689-009-9276-2. Epub 2009 Aug 12.

13.

A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay.

Bianchi F, Maccaroni E, Belvederesi L, Brugiati C, Giampieri R, Bini F, Bracci R, Pagliaretta S, Del Prete M, Piva F, Mandolesi A, Scarpelli M, Berardi R.

Fam Cancer. 2018 Apr;17(2):215-224. doi: 10.1007/s10689-017-0030-x.

PMID:
28785832
14.

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
15.

Lynch syndrome in Tunisia: first description of clinical features and germline mutations.

Moussa SA, Moussa A, Kourda N, Mezlini A, Abdelli N, Zerimech F, Najjar T, Jilani SB, Porchet N, Ayed FB, Manai M, Buisine MP.

Int J Colorectal Dis. 2011 Apr;26(4):455-67. doi: 10.1007/s00384-010-1129-9. Epub 2011 Feb 11.

PMID:
21311894
16.

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Haraldsdottir S, Hampel H, Tomsic J, Frankel WL, Pearlman R, de la Chapelle A, Pritchard CC.

Gastroenterology. 2014 Dec;147(6):1308-1316.e1. doi: 10.1053/j.gastro.2014.08.041. Epub 2014 Sep 3.

17.

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Thodi G, Fostira F, Sandaltzopoulos R, Nasioulas G, Grivas A, Boukovinas I, Mylonaki M, Panopoulos C, Magic MB, Fountzilas G, Yannoukakos D.

BMC Cancer. 2010 Oct 11;10:544. doi: 10.1186/1471-2407-10-544.

18.

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.

Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B.

Eur J Hum Genet. 2013 Feb;21(2):154-61. doi: 10.1038/ejhg.2012.150. Epub 2012 Jul 11.

19.

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Vargas-Parra GM, González-Acosta M, Thompson BA, Gómez C, Fernández A, Dámaso E, Pons T, Morak M, Del Valle J, Iglesias S, Velasco À, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadaló L, Lázaro C, Navarro M, Pineda M, Capellá G.

Int J Cancer. 2017 Oct 1;141(7):1365-1380. doi: 10.1002/ijc.30820. Epub 2017 Jul 3.

20.

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

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