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Article

Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm.

BMC genetics - 1 Jul 2016

Morris Brian, Hughes Elisha, Rosenthal Eric, Gutin Alexander, Bowles Karla R

Abstract excerpt

BACKGROUND: Lynch syndrome is a hereditary cancer syndrome associated with high risks of colorectal and endometrial cancer that is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). Accurate classification of variants identified in these genes as pathogenic or benign enables informed medical management decisions. Previously, we developed a clinical History Weighting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27363726
DOI: 10.1186/s12863-016-0407-0
PMCID: PMC4929734

Genes

BRCA1
MLH1
MSH2
MSH6
BRCA2
EPCAM
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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