Characterization of New ATM Deletion Associated with Hereditary Breast Cancer.

ABSTRACT: Next-generation sequencing (NGS)-based cancer risk screening with multigene panels has become the most successful method for programming cancer prevention strategies. ATM germ-line heterozygosity has been described to increase tumor susceptibility. In particular, families carrying heterozygous germ-line variants of ATM gene have a 5- to 9-fold risk of developing breast cancer. Recent studies identified ATM as the second most mutated gene after CHEK2 in BRCA-negative patients. Nowadays, more than 170 missense variants and several truncating mutations have been identified in ATM gene. Here, we present the molecular characterization of a new ATM deletion, identified thanks to the CNV algorithm implemented in the NGS analysis pipeline. An automated wor

SUBMITTER: Parenti S 

PROVIDER: S-EPMC7911716 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature