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Article

Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.

Familial cancer - 1 Dec 2012

Therkildsen Christina, Isinger-Ekstrand Anna, Ladelund Steen, Nissen Anja, Rambech Eva, Bernstein Inge, Nilbert Mef

Abstract excerpt

Founder mutations with a large impact in distinct populations have been described in Lynch syndrome. In Denmark, the MLH1 c.1667+2_1667_+8TAAATCAdelinsATTT mutation accounts for 25 % of the MLH1 mutant families. We used the national Danish hereditary nonpolyposis colorectal cancer register to estimate the cumulative lifetime risks for Lynch syndrome-associated cancer in 16 founder mutation families with...

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Source

Identifiers

PMID: 22864660
DOI: 10.1007/s10689-012-9552-4

Genes

MLH1

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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