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A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico - 1 Dec 2010

Zárate Ruth, Patiño-García Ana, Sola Jesús, García-Foncillas Jesús

Abstract excerpt

We report a new germline mutation in exon 13 of the hMSH2 gene (c.2081T>C; F694S) in a patient diagnosed with colorectal carcinoma. The patient's family fulfilled the clinical criteria of the Bethesda guidelines for Lynch syndrome. The segregation analysis determined the presence of the mutation...

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PMID: 21156417
DOI: 10.1007/s12094-010-0596-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21156417-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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