A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

doi:10.1093/clinchem/hvaa250

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A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Clinical chemistry - 1 Mar 2021

Feliubadaló Lidia, Moles-Fernández Alejandro, Santamariña-Pena Marta, Sánchez Alysson T, López-Novo Anael, Porras Luz-Marina, Blanco Ana, Capellá Gabriel, de la Hoya Miguel, Molina Ignacio J, Osorio Ana, Pineda Marta, Rueda Daniel, de la Cruz Xavier, Diez Orland, Ruiz-Ponte Clara, Gutiérrez-Enríquez Sara, Vega Ana, Lázaro Conxi

Abstract excerpt

BACKGROUND: Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozygous ATM pathogenic variants increase the risk of cancer, particularly breast cancer. For this reason, ATM is included in most hereditary cancer panels. It is a large...

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PMID: 33280026
DOI: 10.1093/clinchem/hvaa250

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