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Article

Double frameshift mutations in APC and MSH2 in the same individual.

International journal of colorectal disease - 1 Jan 2006

Soravia Claudio, DeLozier Celia D, Dobbie Zuzana, Berthod Claudine Rey, Arrigoni Eviano, Bründler Marie-Anne, Blouin Jean-Louis, Foulkes William D, Hutter Pierre

Abstract excerpt

Heterozygous germline DNA mismatch repair gene mutations are typically associated with HNPCC. Here we report the case of a proband whose father was known for familial adenomatous polyposis. The number of polyps (less than ten) was not typical of polyposis; therefore, the diagnosis of HNPCC was entertained. Microsatellite instability analyses were performed on peripheral blood and biopsy of a right-sided...

Read the complete abstract on PubMed

Topics

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Share to Adenomatous Polyposis Coli
Share to Colectomy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to Diagnosis, Differential

Share to Frameshift Mutation

Share to Genes, APC

Share to Germ-Line Mutation

Share to MutS Homolog 2 Protein

Source

Identifiers

PMID: 16676398
DOI: 10.1007/s00384-005-0772-z

Genes

MSH2
APC
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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