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Items: 1 to 20 of 53

1.

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.

Menéndez M, Castellví-Bel S, Pineda M, de Cid R, Muñoz J, González S, Teulé A, Balaguer F, Ramón y Cajal T, Reñé JM, Blanco I, Castells A, Capellà G.

Clin Genet. 2010 Aug;78(2):186-90. doi: 10.1111/j.1399-0004.2009.01346.x. Epub 2010 Jan 20.

PMID:
20095990
2.

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.

3.

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.

Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, Maher ER.

J Med Genet. 1999 Feb;36(2):97-102.

4.

New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.

Medina-Arana V, Barrios Y, Fernández-Peralta A, Herrera M, Chinea N, Lorenzo N, Jiménez A, Martín-López JV, González-Hermoso F, Salido E, González-Aguilera JJ.

Cancer Lett. 2006 Dec 8;244(2):268-73. Epub 2006 Feb 24.

PMID:
16500024
5.

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA.

Am J Hum Genet. 2002 Dec;71(6):1395-412. Epub 2002 Nov 26.

6.

The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.

Stuckless S, Parfrey PS, Woods MO, Cox J, Fitzgerald GW, Green JS, Green RC.

Fam Cancer. 2007;6(1):1-12.

PMID:
17039271
7.

Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing.

Marafie MJ, Al-Awadi S, Al-Mosawi F, Elshafey A, Al-Ali W, Al-Mulla F.

Fam Cancer. 2009;8(4):289-98. doi: 10.1007/s10689-009-9275-3. Epub 2009 Aug 8.

PMID:
19669601
8.

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.

Kantelinen J, Hansen TV, Kansikas M, Krogh LN, Korhonen MK, Ollila S, Nyström M, Gerdes AM, Kariola R.

Fam Cancer. 2011 Sep;10(3):515-20. doi: 10.1007/s10689-011-9436-z.

PMID:
21431882
9.

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

Chong G, Jarry J, Marcus V, Thiffault I, Winocour S, Monczak Y, Drouin R, Latreille J, Australie K, Bapat B, Gordon PH, Giguère Y, Gologan A, Galiatsatos P, Jass JR, Wong N, Zaor S, Palma L, Kasprzak L, Tischkowitz M, Foulkes WD.

Hum Mutat. 2009 Aug;30(8):E797-812. doi: 10.1002/humu.21056.

PMID:
19459153
10.

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.

Cancer Res. 2008 Apr 1;68(7):2145-53. doi: 10.1158/0008-5472.CAN-07-6599.

11.

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G.

Clin Genet. 2007 Feb;71(2):130-9.

PMID:
17250661
12.

The frequency of Muir-Torre syndrome among Lynch syndrome families.

South CD, Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A.

J Natl Cancer Inst. 2008 Feb 20;100(4):277-81. doi: 10.1093/jnci/djm291. Epub 2008 Feb 12.

PMID:
18270343
13.

[Study on the germline mutation of MSH6 gene in Chinese hereditary nonpolyposis colorectal cancer pedigrees using PCR based sequencing].

Yan SY, Zhou XY, Cai SJ, Yu BH, Zhang TM, Li XM, Lu YM, Zhou HH, Mo SJ, Du X, Shi DR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):640-5. Chinese.

PMID:
18067074
14.

Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.

Ripa RS, Katballe N, Wikman FP, Jäger AC, Bernstein I, Orntoft T, Schwartz M, Nielsen FC, Bisgaard ML.

Mutat Res. 2005 Feb 15;570(1):89-96.

PMID:
15680406
15.

Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors.

Rahner N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Görgens H, Stemmler S, Kloor M, Dietmaier W; Dutch Cancer Genetics Group, Schumacher J, Nöthen MM, Propping P.

Fam Cancer. 2012 Mar;11(1):19-26. doi: 10.1007/s10689-011-9489-z.

PMID:
22086303
16.

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.

17.

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.

Perera S, Ramyar L, Mitri A, Pollett A, Gallinger S, Speevak MD, Aronson M, Bapat B.

J Hum Genet. 2010 Jan;55(1):37-41. doi: 10.1038/jhg.2009.119. Epub 2009 Nov 13.

PMID:
19911012
18.

Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.

Terdiman JP, Gum JR Jr, Conrad PG, Miller GA, Weinberg V, Crawley SC, Levin TR, Reeves C, Schmitt A, Hepburn M, Sleisenger MH, Kim YS.

Gastroenterology. 2001 Jan;120(1):21-30.

PMID:
11208710
19.

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

Goldberg Y, Porat RM, Kedar I, Shochat C, Galinsky D, Hamburger T, Hubert A, Strul H, Kariiv R, Ben-Avi L, Savion M, Pikarsky E, Abeliovich D, Bercovich D, Lerer I, Peretz T.

Fam Cancer. 2010 Jun;9(2):141-50. doi: 10.1007/s10689-009-9298-9.

PMID:
19851887
20.

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.

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