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Article

The effect of mismatch repair deficiency on tumourigenesis; microsatellite instability affecting genes containing short repeated sequences.

International journal of oncology - 1 Jan 2000

Johannsdottir J T, Jonasson J G, Bergthorsson J T, Amundadottir L T, Magnusson J, Egilsson V, Ingvarsson S

Abstract excerpt

We have investigated microsatellite instability (MSI) in colorectal, gastric, endometrial and ovarian cancer as a result of mismatch repair (MMR) deficiency. We detected frameshift mutations in several genes that carry short repeated sequences and are important in cell fidelity and growth control; hMSH3, hMSH6, BAX, IGFIIR, TGFbetaIIR, E2F4 and BRCA2. Accumulation of mutations was heterogeneous and mainly...

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Source

Identifiers

PMID: 10601558
DOI: 10.3892/ijo.16.1.133

Genes

BAX
BRCA2

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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