http://www.cnr.it/ontology/cnr/individuo/prodotto/ID178466

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (Articolo in rivista)

Type

Articolo in rivista (Classe)
Prodotto della ricerca (Classe)

Label

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (Articolo in rivista) (literal)

Anno

2007-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1097/GIM.0b013e31815bf940 (literal)

Alternative label

Cattaneo, Francesca (2); Molatore, Sara (2); Mihalatos, Markos (4); Apessos, Angela (4); Venesio, Tiziana (1); Bione, Silvia (5); Grignani, Pierangela (3); Nasioulas, Georgios (4); Ranzani, Guglielmina Nadia (2) (2007)
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
in Genetics in medicine; Lippincott Williams & Wilkins, Philadelphia (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Cattaneo, Francesca (2); Molatore, Sara (2); Mihalatos, Markos (4); Apessos, Angela (4); Venesio, Tiziana (1); Bione, Silvia (5); Grignani, Pierangela (3); Nasioulas, Georgios (4); Ranzani, Guglielmina Nadia (2) (literal)

Pagina inizio

836 (literal)

Pagina fine

841 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://www.nature.com/gim/journal/v9/n12/full/gim2007124a.html (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

9 (literal)

Rivista

Genetics in medicine (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

6 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

12 (literal)

Note

Scopu (literal)
PubMe (literal)
ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

1) Unit of Pathology - Institute for Cancer Research and Treatment; (2) Department of Genetics and Microbiology - University of Pavia; (3) Department of Legal Medicine and Public Health - University of Pavia; (4) Molecular Biology Research Center HYGEIA-Antonis Papayiannis - ; (5) Institute of Molecular Genetics-CNR - (literal)

Titolo

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. (literal)

Abstract

PURPOSE: Familial adenomatous polyposis is a phenotypically heterogeneous disease predisposing to colorectal cancer. It is dominantly transmitted, when associated with the APC gene, and recessively inherited, when associated with MUTYH gene. We searched for APC and MUTYH germline alterations in Italian and Greek patients with attenuated polyposis, a phenotypic variant whose genetic cause remains unknown in many cases. METHODS: We studied 26 unrelated patients (and 16 relatives) with multiple colorectal adenomas (3-100, by endoscopic analysis) that had screened APC mutation-negative by protein truncation test. We searched for APC rearrangements by multiplex ligation-dependent probe amplification and for MUTYH mutations by sequencing. We performed a screening of five MUTYH recurrent pathogenic mutations in 501 Italian and 144 Greek controls. RESULTS: One patient proved to carry an APC whole-gene deletion; 4 of 25 (16%) patients showed biallelic and 3 of 25 (12%) monoallelic MUTYH mutations. In the three heterozygous subjects no pathogenetic variants were found in OGG1, MTH1, APE1, MSH2, and MSH6 genes. Frequency assessment of MUTYH mutations in healthy subjects showed that only Y165C and G382D reach a subpolymorphic frequency. CONCLUSION: Attenuated polyposis patients without \"conventional\" APC mutations are genetically heterogeneous, and the phenotype is not directly related to the germline defect. Therefore, the families' appropriate management requires an accurate genetic and clinical investigation. (literal)

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