PubMed (cited) for id: 609309

Year	Number of Results
1993	2
1994	10
1995	3
1996	2
1997	4
1998	3
1999	6
2000	5
2001	2
2002	5
2003	7
2004	7
2005	6
2006	5
2007	1
2008	3
2009	3
2012	2
2013	2
2024	0

1

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Lopes P, Sousa O, Fragoso M, Dias LM, Baptista M, Marinho C, Mangold E, Vaccaro C, Evans DG, Farrington S, Dunlop MG, Teixeira MR. Pinheiro M, et al. Clin Genet. 2013 Sep;84(3):244-50. doi: 10.1111/cge.12062. Epub 2012 Dec 27. Clin Genet. 2013. PMID: 23170986

2

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. Borelli I, et al. Eur J Hum Genet. 2013 Feb;21(2):154-61. doi: 10.1038/ejhg.2012.150. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781090 Free PMC article.

3

Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.

Tang R, Hsiung C, Wang JY, Lai CH, Chien HT, Chiu LL, Liu CT, Chen HH, Wang HM, Chen SX, Hsieh LL; TCOG HNPCC Consortium. Tang R, et al. Clin Genet. 2009 Apr;75(4):334-45. doi: 10.1111/j.1399-0004.2009.01162.x. Clin Genet. 2009. PMID: 19419416

4

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Ligtenberg MJ, et al. Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21. Nat Genet. 2009. PMID: 19098912

5

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

Kets CM, Hoogerbrugge N, van Krieken JH, Goossens M, Brunner HG, Ligtenberg MJ. Kets CM, et al. Eur J Hum Genet. 2009 Feb;17(2):159-64. doi: 10.1038/ejhg.2008.153. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781192 Free PMC article.

6

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Tournier I, Vezain M, Martins A, Charbonnier F, Baert-Desurmont S, Olschwang S, Wang Q, Buisine MP, Soret J, Tazi J, Frébourg T, Tosi M. Tournier I, et al. Hum Mutat. 2008 Dec;29(12):1412-24. doi: 10.1002/humu.20796. Hum Mutat. 2008. PMID: 18561205

7

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. Stella A, et al. Clin Genet. 2007 Feb;71(2):130-9. doi: 10.1111/j.1399-0004.2007.00745.x. Clin Genet. 2007. PMID: 17250661

8

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.

Chan TL, Yuen ST, Kong CK, Chan YW, Chan AS, Ng WF, Tsui WY, Lo MW, Tam WY, Li VS, Leung SY. Chan TL, et al. Nat Genet. 2006 Oct;38(10):1178-83. doi: 10.1038/ng1866. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951683

9

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, Campbell H, Dunlop MG. Barnetson RA, et al. N Engl J Med. 2006 Jun 29;354(26):2751-63. doi: 10.1056/NEJMoa053493. N Engl J Med. 2006. PMID: 16807412 Free article.

10

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Kurzawski G, Suchy J, Lener M, Kłujszo-Grabowska E, Kładny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Oszutowska D, Kowalska E, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Sasiadek MM, Stembalska A, Grzebieniak Z, Kilar E, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Limon J, Jawień A, Banaszkiewicz Z, Janiszewska H, Kowalczyk J, Czudowska D, Scott RJ, Lubiński J. Kurzawski G, et al. Clin Genet. 2006 Jan;69(1):40-7. doi: 10.1111/j.1399-0004.2006.00550.x. Clin Genet. 2006. PMID: 16451135

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