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BRCA germline mutation test for all woman with ovarian cancer?

BACKGROUND: Delivering widespread BRCA testing to patients with ovarian cancer has been suggested by several scientists, recommended by professional societies and solicited by patients organizations. However, based on the lack of studies clearly demonstrating the cost-effectiveness of such approach...

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Autores principales: Paradiso, A. V., Digennaro, M., Patruno, M., De Summa, S., Tommasi, S., Berindan-Neagoe, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599356/
https://www.ncbi.nlm.nih.gov/pubmed/31253107
http://dx.doi.org/10.1186/s12885-019-5829-4
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author Paradiso, A. V.
Digennaro, M.
Patruno, M.
De Summa, S.
Tommasi, S.
Berindan-Neagoe, I.
author_facet Paradiso, A. V.
Digennaro, M.
Patruno, M.
De Summa, S.
Tommasi, S.
Berindan-Neagoe, I.
author_sort Paradiso, A. V.
collection PubMed
description BACKGROUND: Delivering widespread BRCA testing to patients with ovarian cancer has been suggested by several scientists, recommended by professional societies and solicited by patients organizations. However, based on the lack of studies clearly demonstrating the cost-effectiveness of such approach compared to standard practice, we evaluated the possibility to better select subgroups of ovarian cancer (OC) patients with higher probability to be a BRCA mutation carrier’. METHODS: We analyzed the database of 2222 germline BRCA analyses from OC patients recently published by Song et al. (Song 2014) by applying multivariate and conditional inference regression tree-analyses. RESULTS: Overall, 178/2192 (8.1%) evaluable OC women showed pathogenic germline mutations in BRCA genes (84 BRCA1;94 BRCA2). BRCA mutations resulted significantly more frequent in Epithelial tumors (10.7%), less differentiated tumours (11.0%) and younger subjects (13.4%). Regression tree analysis permitted to individualize a subset of 66% OC patients with particularly low risk (3.5%) to carry a BRCA mutation vs a subgroup (24% of the series), with a probability higher than 17% to carry a pathogenic mutation. Younger age, OC and Breast Cancer family history were confirmed powerful factors in selecting subgroups of patients with significantly different BRCA mutation probability. CONCLUSIONS: Our regression tree-analysis can represent an innovative approach taking into consideration all main clinical pathological information to select OC patients to be candidated for BRCA test.
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spelling pubmed-65993562019-07-11 BRCA germline mutation test for all woman with ovarian cancer? Paradiso, A. V. Digennaro, M. Patruno, M. De Summa, S. Tommasi, S. Berindan-Neagoe, I. BMC Cancer Research Article BACKGROUND: Delivering widespread BRCA testing to patients with ovarian cancer has been suggested by several scientists, recommended by professional societies and solicited by patients organizations. However, based on the lack of studies clearly demonstrating the cost-effectiveness of such approach compared to standard practice, we evaluated the possibility to better select subgroups of ovarian cancer (OC) patients with higher probability to be a BRCA mutation carrier’. METHODS: We analyzed the database of 2222 germline BRCA analyses from OC patients recently published by Song et al. (Song 2014) by applying multivariate and conditional inference regression tree-analyses. RESULTS: Overall, 178/2192 (8.1%) evaluable OC women showed pathogenic germline mutations in BRCA genes (84 BRCA1;94 BRCA2). BRCA mutations resulted significantly more frequent in Epithelial tumors (10.7%), less differentiated tumours (11.0%) and younger subjects (13.4%). Regression tree analysis permitted to individualize a subset of 66% OC patients with particularly low risk (3.5%) to carry a BRCA mutation vs a subgroup (24% of the series), with a probability higher than 17% to carry a pathogenic mutation. Younger age, OC and Breast Cancer family history were confirmed powerful factors in selecting subgroups of patients with significantly different BRCA mutation probability. CONCLUSIONS: Our regression tree-analysis can represent an innovative approach taking into consideration all main clinical pathological information to select OC patients to be candidated for BRCA test. BioMed Central 2019-06-28 /pmc/articles/PMC6599356/ /pubmed/31253107 http://dx.doi.org/10.1186/s12885-019-5829-4 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Paradiso, A. V.
Digennaro, M.
Patruno, M.
De Summa, S.
Tommasi, S.
Berindan-Neagoe, I.
BRCA germline mutation test for all woman with ovarian cancer?
title BRCA germline mutation test for all woman with ovarian cancer?
title_full BRCA germline mutation test for all woman with ovarian cancer?
title_fullStr BRCA germline mutation test for all woman with ovarian cancer?
title_full_unstemmed BRCA germline mutation test for all woman with ovarian cancer?
title_short BRCA germline mutation test for all woman with ovarian cancer?
title_sort brca germline mutation test for all woman with ovarian cancer?
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599356/
https://www.ncbi.nlm.nih.gov/pubmed/31253107
http://dx.doi.org/10.1186/s12885-019-5829-4
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