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Article

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.

BMC cancer - 20 Nov 2012

Kast Karin, Neuhann Teresa M, Görgens Heike, Becker Kerstin, Keller Katja, Klink Barbara, Aust Daniela, Distler Wolfgang, Schröck Evelin, Schackert Hans K

Abstract excerpt

BACKGROUND: Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC, Lynch Syndrome) are two tumor predisposition syndromes responsible for the majority of hereditary breast and colorectal cancers. Carriers of both germline mutations in breast cancer genes BRCA1 or BRCA2 and in mismatch repair (MMR) genes MLH1, MSH2, MSH6 or PMS2 are very rare. CASE...

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Source

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Identifiers

PMID: 23164213
DOI: 10.1186/1471-2407-12-531
PMCID: PMC3537684

Genes

BRCA1
MSH6
BRCA2
MLH1
MSH2
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.PMID 23164213Read ↗

Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.Semantic proximity Read ↗

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.Semantic proximity Read ↗

Coexisting germline variants of MLH1 and MSH6 in a patient with Lynch syndrome, endometrial cancer, and ovarian cancerSemantic proximity Read ↗

Familial endometrial cancer in female carriers of MSH6 germline mutationsSemantic proximity Read ↗

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.Semantic proximity Read ↗

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.Semantic proximity Read ↗

Prospective Determination of Prevalence of Lynch Syndrome in Young Women With Endometrial CancerSemantic proximity Read ↗

Epidemiological analysis of hereditary endometrial cancer in a large study population.Semantic proximity Read ↗

MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal CancerSemantic proximity Read ↗

Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.Semantic proximity Read ↗

MLH1/PMS2-deficient Endometrial Carcinomas in a Universally Screened Population: MLH1 Hypermethylation and Germline Mutation StatusSemantic proximity Read ↗

Mutational analysis of the hMSH6 gene in familial and early-onset colorectal and endometrial cancer in Israeli patients.Semantic proximity Read ↗

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