A germline substitution in the MSH2 gene is associated with neoplasia in ulcerative colitis

Brentnall, TA; Ce, Rubin; Crispin, DA; Stevens, Alexandra M.; Batchelor, RH; Haggitt, RC; Bronner, MP; Evans, JP; Boland, C. Richard; Bilir, Nuray; Rabinovitch, PS

doi:10.1016/0016-5085(95)26120-6

Cited by 5 publications

(4 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Instability at widespread highly polymorphic tandem repeat DNA sequences, known as microsatellites, has been reported in hereditary nonpolyposis colorectal cancer (HNPCC; Thibodeau et al, 1993), as well as in a number of other familial and sporadic cancers including colon (Ionov et al, 1993), endometrium (Duggan et al, 1994), oesophagus , stomach (Rhyu et al, 1994), pancreas (Brentnall et al, 1995), lung (Shridhar et al, 1994;Merlo et al, 1994), bladder (Gonzalez-Zulueta et al, 1993), kidney , breast (Paulson et al, 1996), ovary (Arzimanoglou et al, 1996), brain (Zhu et al, 1996) and haematopoietic system Kaneka et al, 1996), and some preneoplastic or in¯ammatory tissues (Brentnall et al, 1995(Brentnall et al, , 1996Salvucci et al, 1996). In sporadic tumours, the extension and the type of microsatellite alterations is generally less pronounced than in HNPCC patients and often appears as one or few additional alleles at only one or few loci (Wooster et al, 1994).…”

Section: Introductionmentioning

confidence: 99%

Microsatellite instability in European hepatocellular carcinoma

et al. 1999

View full text Add to dashboard Cite

Genetic instability has been detected in many types of cancers but poorly investigated in hepatocellular carcinoma (HCC). We have studied the incidence of microsatellite instability (MI) at eight highly polymorphic microsatellite markers and the poly A tract BAT26 and tested for mutations at two sites of repetitive sequence (poly-A nucleotides 709 ± 718 and GT repeatnucleotides 1931 ± 1936) in the Transforming Growth Factor b (TGFb) type II receptor (RII) gene, in a group of 46 European HCCs and the surrounding nontumour tissue. This analysis showed that 63% of HCCs exhibit MI in at least one chromosome locus and 41% in two or more loci. No mutations of the TGFbRII gene were found in the MI positive tumours. No correlation was found with clinicopathological characteristics of the tumours such as cirrhosis, etiology, number of nodules, Edmondson's grade and vascular invasion. However, in patients who had a rearranged D16S402 microsatellite in their tumour, the recurrent disease and the number of nodules were signi®cantly higher than in the others (P50.005 and P50.02, respectively). We propose to consider D16S402 rearrangement in HCC as a prognostic factor to identify patients presenting a higher risk of recurrence.

show abstract

Section: Introductionmentioning

confidence: 99%

Microsatellite instability in European hepatocellular carcinoma

et al. 1999

View full text Add to dashboard Cite

show abstract

“…In contrast, a host of changes have been implicated in CRC progression in UC. In addition to mutations in p53, several studies have highlighted the role of aneuploidy [37][38][39][40], sialyl-Tn antigen [41,42], COX-2 [43], and microsatellite instability [44][45][46] in the dysplasiacarcinoma sequence in UC. While one might expect CRC in CD and UC to share a common molecular pathway, the genetic underpinnings and clinical manifestations of each are disparate enough to suggest that this may not necessarily be the case.…”

Section: Discussionmentioning

confidence: 99%

p53 Mutations are Associated with Dysplasia and Progression of Dysplasia in Patients with Crohn’s Disease

et al. 2007

View full text Add to dashboard Cite

show abstract

“…This abnormality occurred at the same frequency in approximately one-fourth of patients with ulcerative colitis-associated dysplasia and carcinoma (35). Recently, microsatellite instability has been detected in 50% of ulcerative colitis patients whose colonic mucosa was negative for dysplasia (36). The authors suggested that the inability of DNA repair mechanisms to compensate for the stress of chronic inflammation might be one mechanism for heightened neoplastic risk in ulcerative colitis.…”

Section: Discussionmentioning

confidence: 99%

“…The observation that the mismatch repair function is lost due to the inflammatory process in patients with short-term ulcerative colitis (36) and the expression of the antigen sTn in biopsy specimen (34) open a new field of investigation in ulcerative colitis surveillance programs.…”

Section: Discussionmentioning

confidence: 99%

Infrequent p53 gene alterations in ulcerative colitis

Mattar

Alexandrino

Laudanna

1999

Braz J Med Biol Res

View full text Add to dashboard Cite

The purpose of this study was to determine whether point mutations and loss of the p53 gene take place in ulcerative colitis which is histologically negative for dysplasia. DNA was extracted from 13 frozen rectal or colon biopsies and blood samples. Ulcerative colitis was classified histologically as active (10 cases) and inactive (3 cases). Exons 5-8 were amplified by PCR, treated with exonuclease and shrimp alkaline phosphatase and sequenced by the dideoxy chain termination method with the Sequenase Version 2.0 DNA sequencing kit. PCR products of intron 6 and exon 4 were digested with MspI and AccII, respectively, for RFLP analysis. No p53 gene mutation was detected in these cases. The number of informative patients for loss of heterozygosity (LOH) at the p53 intron 6 was high, 11 out of 12 (92%), whereas no LOH was observed. LOH affecting p53 exon 4 was not detected in lesions from 5 of 12 patients (42%). In ulcerative colitis, tumor progression is similar to that in sporadic colon cancer, and other oncogenes and tumor suppressor genes are likely to be mutated before the p53 gene.

show abstract

A germline substitution in the MSH2 gene is associated with neoplasia in ulcerative colitis

Cited by 5 publications

References 0 publications

Microsatellite instability in European hepatocellular carcinoma

Microsatellite instability in European hepatocellular carcinoma

p53 Mutations are Associated with Dysplasia and Progression of Dysplasia in Patients with Crohn’s Disease

Infrequent p53 gene alterations in ulcerative colitis

Contact Info

Product

Resources

About