Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Characterization of New ATM Deletion Associated with Hereditary Breast Cancer

Version 1 : Received: 22 December 2020 / Approved: 22 December 2020 / Online: 22 December 2020 (10:17:48 CET)

How to cite: Parenti, S.; Rabacchi, C.; Marino, M.; Tenedini, E.; Artuso, L.; Castellano, S.; Carretta, C.; Mallia, S.; Cortesi, L.; Toss, A.; Barbieri, E.; Manfredini, R.; Luppi, M.; Trenti, T.; Tagliafico, E. Characterization of New ATM Deletion Associated with Hereditary Breast Cancer. Preprints 2020, 2020120548 (doi: 10.20944/preprints202012.0548.v1). Parenti, S.; Rabacchi, C.; Marino, M.; Tenedini, E.; Artuso, L.; Castellano, S.; Carretta, C.; Mallia, S.; Cortesi, L.; Toss, A.; Barbieri, E.; Manfredini, R.; Luppi, M.; Trenti, T.; Tagliafico, E. Characterization of New ATM Deletion Associated with Hereditary Breast Cancer. Preprints 2020, 2020120548 (doi: 10.20944/preprints202012.0548.v1).

Abstract

Next Generation Sequencing 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 as able to increase tumor susceptibility. In particular, families that carry heterozygous germ-line variants of ATM gene show 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 potential missense variants and several truncating mutations have been identified in ATM gene. Here we present the molecular characterization 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 to identify a new inactivating deletion of exons 19-27 of ATM gene. DNA breakpoint was characterized both at DNA and RNA level

Subject Areas

next-generation sequencing; hereditary breast cancer; Homologous Recombination Repair; hereditary cancer syndrome; Clinical genomics; Molecular diagnostics

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