4.6 Article

Characterization of New ATM Deletion Associated with Hereditary Breast Cancer

Journal

GENES
Volume 12, Issue 2, Pages -

Publisher

MDPI
DOI: 10.3390/genes12020136

Keywords

next-generation sequencing; breast cancer; ATM; homologous recombination repair; hereditary cancer syndromes; clinical genomics; molecular diagnostics

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NGS-based multigene panel cancer risk screening is a successful cancer prevention strategy, with ATM gene variants increasing breast cancer risk. ATM is the second most mutated gene in BRCA-negative patients.
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 workflow implementing the SOPHiA Genetics' Hereditary Cancer Solution (HCS) protocol was used to generate NGS libraries that were sequenced on Illumina MiSeq Platform. NGS data analysis allowed us to identify a new inactivating deletion of exons 19-27 of ATM gene. The deletion was characterized both at the DNA and RNA level.

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