Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma (Articolo in rivista)

Type
Label
  • Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma (Articolo in rivista) (literal)
Anno
  • 2005-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.ejca.2005.01.013 (literal)
Alternative label
  • Colombino M; Cossu A; Budroni M; Satta MP; Baldinu P; Casula M; Palomba G; Pisano M; Sini MC; Deiana A; Tanda F; Palmieri G (2005)
    Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma
    in European journal of cancer (1990)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Colombino M; Cossu A; Budroni M; Satta MP; Baldinu P; Casula M; Palomba G; Pisano M; Sini MC; Deiana A; Tanda F; Palmieri G (literal)
Pagina inizio
  • 1058 (literal)
Pagina fine
  • 1064 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.sciencedirect.com/science/article/pii/S095980490500105X (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 41 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 7 (literal)
Note
  • Scopu (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Chimica Biomolecolare-Sezione di Sassari, C.N.R.; Istituto di Anatomia Patologica, Università degli Studi di Sassari; Centro Epidemiologico Multizonale, Azienda Unità Sanitaria Locale 1, Sassari (literal)
Titolo
  • Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma (literal)
Abstract
  • Factors predictive of carrying MLH1 and MSH2 germline mutations in patients with colorectal cancer (CRC) are awaited. In this population-based study, we further define the role of MLH1/MSH2 mutations through a evaluation clinic program among 362 consecutively-collected Sardinian CRC patients. Eight MLH1/MSH2 germline mutations were detected in 21 (6%) patients. Considering the family cancer history, MLH1/MSH2 mutations were found in 14/48 (29.2%) probands from CRC families and, among them, in 10/13 (76.9%) families fulfilling the Amsterdam criteria. The patients with low familial recurrence (two CRCs in family) presented a much lower frequency of MLH1/MSH2 mutations (2/55;3.6%). Significantly higher rates of MLH1/MSH2 mutations were found in patients with age of onset <45 years (P=0.012) or with >3 affected family members (P=0.009). While no significant predictive value was found for the presence of endometrial cancer within the family, earlier diagnosis age and/or familial CRC recurrence should be considered as strong predictors for the occurrence of MLH1/MSH2 mutations, useful in addressing CRC patients to genetic test. (literal)
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