Characterization of New ATM Deletion Associated with Hereditary Breast Cancer. 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. Genes, January, 2021.
doi  abstract   bibtex   
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.
@article{parenti_characterization_2021,
	title = {Characterization of {New} {ATM} {Deletion} {Associated} with {Hereditary} {Breast} {Cancer}},
	volume = {12},
	issn = {2073-4425},
	doi = {10.3390/genes12020136},
	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 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.},
	language = {eng},
	number = {2},
	journal = {Genes},
	author = {Parenti, Sandra and Rabacchi, Claudio and Marino, Marco and Tenedini, Elena and Artuso, Lucia and Castellano, Sara and Carretta, Chiara and Mallia, Selene and Cortesi, Laura and Toss, Angela and Barbieri, Elena and Manfredini, Rossella and Luppi, Mario and Trenti, Tommaso and Tagliafico, Enrico},
	month = jan,
	year = {2021},
	pmid = {33494414},
	keywords = {ATM, CNV, HCS, SOPHiA DDM, breast cancer, clinical genomics, hereditary cancer syndromes, homologous recombination repair, molecular diagnostics, next-generation sequencing},
}

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