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Article

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

American journal of medical genetics. Part A - 15 May 2008

Rahner Nils, Höefler Gerald, Högenauer Christoph, Lackner Caroline, Steinke Verena, Sengteller Marlies, Friedl Waltraut, Aretz Stefan, Propping Peter, Mangold Elisabeth, Walldorf Constanze

Abstract excerpt

Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC) is an autosomal dominant condition caused by heterozygous germline mutations in the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. Rare cases have been reported of an inherited bi-allelic deficiency of MMR genes, assoc...

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Source

Identifiers

PMID: 18409202
DOI: 10.1002/ajmg.a.32210

Genes

MSH6
MLH1
MSH2
PMS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18409202-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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