Endometrial cancer and somatic G > T KRAS transversion in patients with constitutional MUTYH biallelic mutations

Maurizio Genuardi, Pierluigi Bettiol Furlan, Cristina Di Gregorio, R Tricarico, B Ciambotti, B Gatteschi, V Gismondi, B Toschi, F Tonelli, L Varesco

Risultato della ricerca: Contributo in rivistaArticolo in rivista

14 Citazioni (Scopus)

Abstract

MUTYH-associated polyposis (MAP) is an autosomal recessive condition predisposing to colorectal cancer, caused by constitutional biallelic mutations in the base excision repair (BER) gene MUTYH. Colorectal tumours from MAP patients display an excess of somatic G>T mutations in the APC and KRAS genes due to defective BER function. To date, few extracolonic manifestations have been observed in MAP patients, and the clinical spectrum of this condition is not yet fully established. Recently, one patient with a diagnosis of endometrial cancer and biallelic MUTYH mutations has been described. We here report on two additional unrelated MAP patients with biallelic MUTYH germline mutations who developed endometrioid endometrial carcinoma. The endometrial tumours were evaluated for MEN, PIK3CA, KRAS, BRAF and CTNNB1 mutations. A G>T transversion at codon 12 of the KRAS gene was observed in one tumour. A single 1 bp frameshift deletion of PTEN was observed in the same sample. Overall, these findings suggest that endometrial carcinoma is a phenotypic manifestations of MAP and that inefficient repair of oxidative damage can be involved in its pathogenesis. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
Lingua originaleEnglish
pagine (da-a)266-270
Numero di pagine5
RivistaCancer Letters
Volume274
DOI
Stato di pubblicazionePubblicato - 2009

Keywords

  • ACTIVATION
  • ADENOMATOUS POLYPOSIS
  • BRAF
  • CARCINOMA
  • COLORECTAL ADENOMAS
  • KI-RAS ONCOGENE
  • MELTING ANALYSIS
  • MYH-ASSOCIATED POLYPOSIS
  • PIK3CA GENE-MUTATIONS
  • REPAIR PROTEIN EXPRESSION

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