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Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.

Genes - 21 Apr 2021

Toss Angela, Tenedini Elena, Piombino Claudia, Venturelli Marta, Marchi Isabella, Gasparini Elisa, Barbieri Elena, Razzaboni Elisabetta, Domati Federica, Caggia Federica, Grandi Giovanni, Combi Francesca, Tazzioli Giovanni, Dominici Massimo, Tagliafico Enrico, Cortesi Laura

Abstract excerpt

The most common breast cancer (BC) susceptibility genes beyond BRCA1/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, 1185 multi-gene panel tests have been performed. Nineteen ATM and 17 CHEK2 mutation carriers affected by 46 different BCs were identified. A...

Topics

Ataxia Telangiectasia Mutated Proteins
Breast Neoplasms
Checkpoint Kinase 2
Female
Gene Frequency
Germ-Line Mutation
Heterozygote
Humans
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33919281
DOI: 10.3390/genes12050616
PMCID: PMC8143279

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