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Article

Correlations between phenotype and microsatellite instability in HNPCC: implications for genetic testing.

Familial cancer - 1 Jan 2004

Palmirotta Raffaele, Matera Sabino, Curia Maria Cristina, Aceto Gitana, el Zhobi Bassam, Verginelli Fabio, Guadagni Fiorella, Casale Vincenzo, Stigliano Vittoria, Messerini Luca, Mariani-Costantini Renato, Battista Pasquale, Cama Alessandro

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is widely considered to be a syndrome of defective mismatch repair (MMR). A major concern with genetic diagnosis of HNPCC is the variable, often low, percentage of pathogenic germline mutations that can be detected in MMR genes using common screen...

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Identifiers

PMID: 15340262
DOI: 10.1023/B:FAME.0000039864.19083.3a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15340262-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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