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Article

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

BMC medical genetics - 3 Oct 2013

Petersen Sanne M, Dandanell Mette, Rasmussen Lene J, Gerdes Anne-Marie, Krogh Lotte N, Bernstein Inge, Okkels Henrik, Wikman Friedrik, Nielsen Finn C, Hansen Thomas V O

Abstract excerpt

BACKGROUND: Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as...

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Source

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Identifiers

PMID: 24090359
DOI: 10.1186/1471-2350-14-103
PMCID: PMC3850734

Genes

MLH1
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24090359-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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