Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/20210238http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20210238http://www.w3.org/2000/01/rdf-schema#comment"

Aims and background

Colorectal carcinoma patients from hereditary non-polyposis colorectal cancer families are suggested to have a better prognosis than sporadic colorectal carcinoma cases. Since the majority of hereditary non-polyposis colorectal cancer-related colorectal carcinomas are characterized by microsatellite instability due to germline mutations in DNA mismatch repair genes, this is consistent with the prolonged survival observed in sporadic microsatellite instability-positive colorectal carcinoma compared to microsatellite stable cases. However, a fraction of colorectal carcinoma cases belongs to families that, despite fulfilling the clinical criteria for hereditary non-polyposis colorectal cancer, do not carry mismatch repair gene mutations. Our aim was to verify to what extent the genotypic heterogeneity influences the prognosis of hereditary non-polyposis colorectal cancer patients.

Methods

A survival analysis was performed on 526 colorectal carcinoma cases from 204 Amsterdam Criteria-positive hereditary non-polyposis colorectal cancer families. Enrolled cases were classified as MLH1-positive, MSH2-positive and mutation-negative, according to the results of genetic testing in each family.

Results

Five-year survival rates were 0.73 (95% CI, 0.66-0.80), 0.75 (95% CI, 0.66-0.84) and 0.62 (95% CI, 0.55-0.68) for MLH1-positive, MSH2-positive and mutation-negative groups, respectively (logrank test, P = 0.01). Hazard ratio, computed using Cox regression analysis and adjusted for age, sex, tumor site and stage, was 0.71 (95% CI, 0.51-0.98) for the mutation-positive compared to the mutation-negative group. Moreover, in the latter group, patients with microsatellite instability-positive colorectal carcinomas showed a better outcome than microsatellite stable cases (5-year survival rates, 0.81 and 0.60, respectively; logrank test, P = 0.006).

Conclusions

Our results suggest that the prognosis of hereditary non-polyposis colorectal cancer-related colorectal carcinoma patients depends on the associated constitutional mismatch repair genotype."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.org/dc/terms/identifier"doi:10.1177/030089160909500616"xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Russo A."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Mareni C."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Radice P."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Viel A."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Pierotti M.A."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Gazzoli I."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Cama A."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Genuardi M."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Benatti P."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Bertario L."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Fornasarig M."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Sala P."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Alberici P."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Curia M.C."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Stigliano V."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Lucci-Cordisco E."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Messerini L."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Pedroni M."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Santarosa M."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Torrini M."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"Signoroni S."xsd:string
http://purl.uniprot.org/citations/20210238http://purl.uniprot.org/core/author"de Leon M.P."xsd:string
▶