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Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

Familial cancer - 1 Jan 2009

Toledano Helen, Goldberg Yael, Kedar-Barnes Inbal, Baris Hagit, Porat Rinnat M, Shochat Chen, Bercovich Dani, Pikarsky Eli, Lerer Israela, Yaniv Isaac, Abeliovich Dvorah, Peretz Tamar

Abstract excerpt

Hereditary non-polyposis colorectal cancer is a cancer predisposition syndrome known to be caused by heterozygous germline mutations in DNA mismatch repair genes (MMR) most commonly hMLH1, hMSH2, hMSH6. Heterozygous mutations in one of these genes confer an increased risk, mainly for colon and endometrial cancer. Recently, several publications identified that biallelic mutations in the MMR genes are associated...

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Source

Identifiers

PMID: 19101824
DOI: 10.1007/s10689-008-9227-3

Genes

MSH2
MLH1
MSH6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.PMID 19101824Read ↗

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.Semantic proximity Read ↗

A636P is associated with early-onset colon cancer in Ashkenazi Jews.Semantic proximity Read ↗

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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.Semantic proximity Read ↗

Biallelic Mismatch Repair Deficiency – a rare and trouble genetic syndromeSemantic proximity Read ↗

Mutation spectrum in HNPCC in the Israeli population.Semantic proximity Read ↗

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.Semantic proximity Read ↗

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Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.Semantic proximity Read ↗

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutationsSemantic proximity Read ↗

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