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Article

Germline novel<i> MSH2 </i>deletions and a founder<i> MSH2 </i>deletion associated with anticipation effects in HNPCC

8 Jan 2007

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC) is caused by inactivating mutations of DNA mismatch repair genes. Large genomic rearrangements in these genes have been increasingly recognized as important causes of HNPCC. Using multiplex ligation-dependent probe amplification, we identified three MSH2 deletions in Italian patients with HNPCC (proband A: exons 1-3, proband M: exon 8, and proband C: exons 1-6)....

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Identifiers

PMID: 17250661
DOI: 10.1111/j.1399-0004.2007.00745.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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