AIM: To establish the role of human T Cell Factor-4 (hTCF-4) gene exons 3-9 mutation status in association with sporadic rectal cancer with microsatellite instability (MSI). METHODS: Microsatellite markers were genotyped in 93 sporadic rectal cancer patients. Eleven cases were found to be high-frequency MSI (MSI-H). Sequence analysis of the coding region of the exons 3-9 of hTCF-4 gene was carried out for the 11 MSI-H cases and 10 controls (5 microsatellite stability (MSS) cases and 5 cases with normal mucosa). The sequencing and MSI identification were used. RESULTS: Several novel mutations and variants were revealed. In exon 4, one is a 4-position continuous alteration which caused amino acid change from Q131T and S132I (391insA, 392 G > A, 393 A > G and 395delC) and another nucleotide deletion (395delC) is present in MSI-H cases (5/10 and 4/10, respectively) but completely absent in the controls. CONCLUSION: Novel mutations in exon 4 of hTCF-4 gene were revealed in this study, which might be of importance in the pathogenesis of sporadic rectal cancer patients with MSI-H.
AIM: To establish the role of humanT Cell Factor-4 (hTCF-4) gene exons 3-9 mutation status in association with sporadic rectal cancer with microsatellite instability (MSI). METHODS: Microsatellite markers were genotyped in 93 sporadic rectal cancerpatients. Eleven cases were found to be high-frequency MSI (MSI-H). Sequence analysis of the coding region of the exons 3-9 of hTCF-4 gene was carried out for the 11 MSI-H cases and 10 controls (5 microsatellite stability (MSS) cases and 5 cases with normal mucosa). The sequencing and MSI identification were used. RESULTS: Several novel mutations and variants were revealed. In exon 4, one is a 4-position continuous alteration which caused amino acid change from Q131T and S132I (391insA, 392 G > A, 393 A > G and 395delC) and another nucleotide deletion (395delC) is present in MSI-H cases (5/10 and 4/10, respectively) but completely absent in the controls. CONCLUSION: Novel mutations in exon 4 of hTCF-4 gene were revealed in this study, which might be of importance in the pathogenesis of sporadic rectal cancerpatients with MSI-H.
Authors: J Roose; M Molenaar; J Peterson; J Hurenkamp; H Brantjes; P Moerer; M van de Wetering; O Destrée; H Clevers Journal: Nature Date: 1998-10-08 Impact factor: 49.962
Authors: A Loukola; K Eklin; P Laiho; R Salovaara; P Kristo; H Järvinen; J P Mecklin; V Launonen; L A Aaltonen Journal: Cancer Res Date: 2001-06-01 Impact factor: 12.701
Authors: C R Boland; S N Thibodeau; S R Hamilton; D Sidransky; J R Eshleman; R W Burt; S J Meltzer; M A Rodriguez-Bigas; R Fodde; G N Ranzani; S Srivastava Journal: Cancer Res Date: 1998-11-15 Impact factor: 12.701
Authors: Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de la Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Païvi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; Hans F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; Sudhir Srivastava Journal: J Natl Cancer Inst Date: 2004-02-18 Impact factor: 13.506