Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

doi:10.1002/humu.24110

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Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

Human mutation - 1 Dec 2020

Vargas-Parra Gardenia, Del Valle Jesús, Rofes Paula, Gausachs Mireia, Stradella Agostina, Moreno-Cabrera José M, Velasco Angela, Tornero Eva, Menéndez Mireia, Muñoz Xavier, Iglesias Silvia, López-Doriga Adriana, Azuara Daniel, Campos Olga, Cuesta Raquel, Darder Esther, de Cid Rafael, González Sara, Teulé Alex, Navarro Matilde, Brunet Joan, Capellá Gabriel, Pineda Marta, Feliubadaló Lídia, Lázaro Conxi

Abstract excerpt

CHEK2 variants are associated with intermediate breast cancer risk, among other cancers. We aimed to comprehensively describe CHEK2 variants in a Spanish hereditary cancer (HC) cohort and adjust the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines for their classification. First, three CHEK2 frequent variants were screened in a retrospective...

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PMID: 32906215
DOI: 10.1002/humu.24110

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

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