Microsatellite instability and mutation analysis among Southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. (Articolo in rivista)

Type
Label
  • Microsatellite instability and mutation analysis among Southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Alternative label
  • Colombino M, Cossu A, Arba A, Manca A, Curci A, Avallone A, Comella G, Botti G, Scintu F, Amoruso M, DAbbicco D, d'Agnessa M, Spanu A, Tanda F, Palmieri G. (2003)
    Microsatellite instability and mutation analysis among Southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
    in Annals of oncology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Colombino M, Cossu A, Arba A, Manca A, Curci A, Avallone A, Comella G, Botti G, Scintu F, Amoruso M, DAbbicco D, d'Agnessa M, Spanu A, Tanda F, Palmieri G. (literal)
Pagina inizio
  • 1530 (literal)
Pagina fine
  • 1536 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 14 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Titolo
  • Microsatellite instability and mutation analysis among Southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. (literal)
Abstract
  • Background: Microsatellite instability (MSI) is due to defective DNA mismatch repair (MMR) and has been detected at various rates in colorectal carcinoma (CRC). Role of MSI in colorectal tumorigenesis was further assessed by both microsatellite analysis of two CRC subsets [unselected (N=215) and <50-year (N=95) patients] and mutation screening of the two major MMR genes (MLH1 and MSH2) among familial CRC cases. Patients and Methods: PCR-based microsatellite analysis was performed on paraffin-embedded tissues. In CRC families, MLH1/MSH2 mutation analysis and MLH1/MSH2 immunostaining were performed on germline DNA and MSI+ tumor tissues, respectively. Results: The MSI+ phenotype was detected in 75 (24%) patients, with higher incidence in early-onset or proximally-located tumors. Among 220 patients investigated for family cancer history, MSI frequency was markedly higher in familial (18/27; 67%) than sporadic (32/193; 17%) cases. Three MLH1 and six MSH2 germline mutations were identified in 14/36 (39%) CRC families. Prevalence of MLH1/MSH2 mutations in CRC families was significantly increased by the presence of: a) fulfilled Amsterdam Criteria; or b) >4 CRCs; or c) >1 endometrial cancer. While MSH2 was found mostly mutated, almost all (8/9; 89%) familial MSI+ cases with loss of the MLH1 protein were negative for MLH1 germline mutations. Conclusions: Both genetic (for MSH2) or gene-silencing (for MLH1) alterations seem to be involved in CRC pathogenesis. (literal)
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it