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Article

Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment.

Einstein (Sao Paulo, Brazil) - 1 Jan 2026

Chami Anisse Marques, Zózimo Thalia Rodrigues de Souza, Matosinho Carolina Guimarães Ramos, Silva-Filho Agnaldo Lopes da, Carvalho Maria Raquel Santos, Braga Letícia da Conceição

Abstract excerpt

OBJECTIVE: To describe the clinical characteristics and perform a multi-step bioinformatics evaluation of the pathogenicity of NM_000251.3(MSH2):c.1894_1898del (p.Ile633Lysfs*9), an MSH2 germline variant detected in a family with Lynch syndrome. METHODS: Clinical evaluation included description of phenotype, family history, and immunohistochemical characterization of the proband's tumors. For pathogenicity...

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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: 41538474
DOI: 10.31744/einstein_journal/2026AO0757
PMCID: PMC12713438

Genes

MSH2
MSH6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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