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Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer

As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cance...

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Autores principales: Tedaldi, Gianluca, Tebaldi, Michela, Zampiga, Valentina, Danesi, Rita, Arcangeli, Valentina, Ravegnani, Mila, Cangini, Ilaria, Pirini, Francesca, Petracci, Elisabetta, Rocca, Andrea, Falcini, Fabio, Amadori, Dino, Calistri, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564544/
https://www.ncbi.nlm.nih.gov/pubmed/28423363
http://dx.doi.org/10.18632/oncotarget.16791
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author Tedaldi, Gianluca
Tebaldi, Michela
Zampiga, Valentina
Danesi, Rita
Arcangeli, Valentina
Ravegnani, Mila
Cangini, Ilaria
Pirini, Francesca
Petracci, Elisabetta
Rocca, Andrea
Falcini, Fabio
Amadori, Dino
Calistri, Daniele
author_facet Tedaldi, Gianluca
Tebaldi, Michela
Zampiga, Valentina
Danesi, Rita
Arcangeli, Valentina
Ravegnani, Mila
Cangini, Ilaria
Pirini, Francesca
Petracci, Elisabetta
Rocca, Andrea
Falcini, Fabio
Amadori, Dino
Calistri, Daniele
author_sort Tedaldi, Gianluca
collection PubMed
description As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cancer predisposition, although raising many questions about patient management. BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS. Patient clinical features of BC and OC and cancer family history were collected and compared to the patient genetic profile. A total of 255 women were analyzed, 57 of whom had a pathogenic mutation in BRCA1/2 genes, and 17 carried pathogenic mutations in other genes, such as PALB2, ATM, BRIP1, RAD51D, MSH6, PPM1D, RECQL4, ERCC3, TSC2, SLX4 and other Fanconi anemia genes. Patients with a pathogenic mutation in genes other than BRCA1 and BRCA2 showed no significant difference from the BRCA1/2-mutated carriers with respect to age at diagnosis and clinical features, suggesting that mutations in other genes could pose a high risk of cancer development. These patients had a much higher percentage of bilateral breast cancer (BBC) and a lower rate of OC than BRCA-mutated patients and patients with no pathogenic mutations: as a consequence, the surveillance protocol should be customized to the patient genetic characteristics.
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spelling pubmed-55645442017-08-23 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer Tedaldi, Gianluca Tebaldi, Michela Zampiga, Valentina Danesi, Rita Arcangeli, Valentina Ravegnani, Mila Cangini, Ilaria Pirini, Francesca Petracci, Elisabetta Rocca, Andrea Falcini, Fabio Amadori, Dino Calistri, Daniele Oncotarget Research Paper As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cancer predisposition, although raising many questions about patient management. BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS. Patient clinical features of BC and OC and cancer family history were collected and compared to the patient genetic profile. A total of 255 women were analyzed, 57 of whom had a pathogenic mutation in BRCA1/2 genes, and 17 carried pathogenic mutations in other genes, such as PALB2, ATM, BRIP1, RAD51D, MSH6, PPM1D, RECQL4, ERCC3, TSC2, SLX4 and other Fanconi anemia genes. Patients with a pathogenic mutation in genes other than BRCA1 and BRCA2 showed no significant difference from the BRCA1/2-mutated carriers with respect to age at diagnosis and clinical features, suggesting that mutations in other genes could pose a high risk of cancer development. These patients had a much higher percentage of bilateral breast cancer (BBC) and a lower rate of OC than BRCA-mutated patients and patients with no pathogenic mutations: as a consequence, the surveillance protocol should be customized to the patient genetic characteristics. Impact Journals LLC 2017-04-03 /pmc/articles/PMC5564544/ /pubmed/28423363 http://dx.doi.org/10.18632/oncotarget.16791 Text en Copyright: © 2017 Tedaldi et al. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (http://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Paper
Tedaldi, Gianluca
Tebaldi, Michela
Zampiga, Valentina
Danesi, Rita
Arcangeli, Valentina
Ravegnani, Mila
Cangini, Ilaria
Pirini, Francesca
Petracci, Elisabetta
Rocca, Andrea
Falcini, Fabio
Amadori, Dino
Calistri, Daniele
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
title Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
title_full Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
title_fullStr Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
title_full_unstemmed Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
title_short Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
title_sort multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564544/
https://www.ncbi.nlm.nih.gov/pubmed/28423363
http://dx.doi.org/10.18632/oncotarget.16791
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