Gene Symbol: MSH2
OMIM: 609309Chromosome location: 2p21
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Sardinia | 8 families/13 families | NA | Borelli I et al., 2013Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B, . A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.. Eur. J. Hum. Genet.. 2013; 21(2):154-61 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Sardinia | 2 families/13 families | NA | Borelli I et al., 2013Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B, . A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.. Eur. J. Hum. Genet.. 2013; 21(2):154-61 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Spain | NA | Tenerife | 5 families | NA | Martín-López JV et al., 2012Martín-López JV, Barrios Y, Medina-Arana V, Andújar M, Lee S, Gu L, Li GM, Rüschoff J, Salido E, Fishel R, . The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.. Carcinogenesis. 2012; 33(9):1647-54 |
| Spain | NA | Tenerife | 5 families | NA | Medina-Arana V et al., 2006Medina-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, . New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.. Cancer Lett.. 2006; 244(2):268-73 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Turkey | NA | NA | 5 patients/28 patients | NA | Tunca B et al., 2010Tunca B, Pedroni M, Cecener G, Egeli U, Borsi E, Zorluoglu A, Di Gregorio C, Yilmazlar T, Yerci O, de Leon MP, . Analysis of mismatch repair gene mutations in Turkish HNPCC patients.. Fam. Cancer. 2010; 9(3):365-76 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Spain | NA | Catalonia | 4 Unrelated families | NA | Menéndez M et al., 2010Menéndez 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, . Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.. Clin. Genet.. 2010; 78(2):186-90 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Northeastern | 2 families | NA | Stella A et al., 2007Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G, . Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.. Clin. Genet.. 2007; 71(2):130-9 |
References
Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B, A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.Eur. J. Hum. Genet.. 2013; 21(2):154-61
Martín-López JV, Barrios Y, Medina-Arana V, Andújar M, Lee S, Gu L, Li GM, Rüschoff J, Salido E, Fishel R, The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.Carcinogenesis. 2012; 33(9):1647-54
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, New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.Cancer Lett.. 2006; 244(2):268-73
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, Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.Clin. Genet.. 2010; 78(2):186-90
Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G, Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.Clin. Genet.. 2007; 71(2):130-9
Tunca B, Pedroni M, Cecener G, Egeli U, Borsi E, Zorluoglu A, Di Gregorio C, Yilmazlar T, Yerci O, de Leon MP, Analysis of mismatch repair gene mutations in Turkish HNPCC patients.Fam. Cancer. 2010; 9(3):365-76