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Article

Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair-deficient tumors.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2015

Dempsey Katherine M, Broaddus Russell, You Y Nancy, Noblin Sarah Jane, Mork Maureen, Fellman Bryan, Urbauer Diana, Daniels Molly, Lu Karen

Abstract excerpt

PURPOSE: Mismatch repair-deficient (MMRD) colorectal cancer (CRC) and endometrial cancer (EC) may be suggestive of Lynch syndrome (LS). LS can be confirmed only by positive germ-line testing. It is unclear if individuals with MMRD tumors but no identifiable cause (MMRD+/germ-line-) have LS. Becau...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mismatch Repair

Share to Endometrial Neoplasms

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Share to Germ-Line Mutation

Share to Proto-Oncogene Proteins B-raf

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Source

Open in PubMed Open full text

Identifiers

PMID: 25341111
DOI: 10.1038/gim.2014.131
PMCID: PMC4936192

Genes

BRAF
MLH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25341111-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair-deficient tumors.PMID 25341111Read ↗

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Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndromeSemantic proximity Read ↗

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-CancerSemantic proximity Read ↗

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Semantic proximity Read ↗

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.Semantic proximity Read ↗

Clinicopathologic characteristics and outcomes of endometrial Cancer patients with mismatch repair deficiency in the era of universal Lynch syndrome screening.Semantic proximity Read ↗

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