Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary o...

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Autores principales: Minucci, Angelo, Concolino, Paola, De Bonis, Maria, Costella, Alessandra, Paris, Ida, Scambia, Giovanni, Capoluongo, Ettore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031/
https://www.ncbi.nlm.nih.gov/pubmed/29760936
http://dx.doi.org/10.1038/s41439-018-0003-0
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author Minucci, Angelo
Concolino, Paola
De Bonis, Maria
Costella, Alessandra
Paris, Ida
Scambia, Giovanni
Capoluongo, Ettore
author_facet Minucci, Angelo
Concolino, Paola
De Bonis, Maria
Costella, Alessandra
Paris, Ida
Scambia, Giovanni
Capoluongo, Ettore
author_sort Minucci, Angelo
collection PubMed
description Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073 A > T variant might play a pathogenic role in HOC syndrome in this family.
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spelling pubmed-59380312018-05-14 Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome Minucci, Angelo Concolino, Paola De Bonis, Maria Costella, Alessandra Paris, Ida Scambia, Giovanni Capoluongo, Ettore Hum Genome Var Data Report Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073 A > T variant might play a pathogenic role in HOC syndrome in this family. Nature Publishing Group UK 2018-04-20 /pmc/articles/PMC5938031/ /pubmed/29760936 http://dx.doi.org/10.1038/s41439-018-0003-0 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Minucci, Angelo
Concolino, Paola
De Bonis, Maria
Costella, Alessandra
Paris, Ida
Scambia, Giovanni
Capoluongo, Ettore
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
title Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
title_full Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
title_fullStr Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
title_full_unstemmed Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
title_short Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
title_sort preliminary molecular evidence associating a novel brca1 synonymous variant with hereditary ovarian cancer syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031/
https://www.ncbi.nlm.nih.gov/pubmed/29760936
http://dx.doi.org/10.1038/s41439-018-0003-0
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