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Article

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2007

Cattaneo Francesca, Molatore Sara, Mihalatos Markos, Apessos Angela, Venesio Tiziana, Bione Silvia, Grignani Pierangela, Nasioulas Georgios, Ranzani Guglielmina Nadia

Abstract excerpt

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...

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Source

Identifiers

PMID: 18091433
DOI: 10.1097/gim.0b013e31815bf940

Genes

APC
MUTYH
MSH2
MSH6
OGG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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