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BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients

Background: High grade serous ovarian carcinoma (HGSOC) is the most lethal type of epithelial ovarian cancer, with a prevalence of germline BRCA1/2 mutations as high as 20%. Our objective is to determine whether the location of mutations in the different domains of the BRCA1/2 genes affects the clin...

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Autores principales: Liontos, Michalis, Zografos, Eleni, Zoumpourlis, Panagiotis, Andrikopoulou, Angeliki, Svarna, Anna, Fiste, Oraianthi, Kunadis, Elena, Papatheodoridi, Alkistis Maria, Kaparelou, Maria, Koutsoukos, Konstantinos, Thomakos, Nikoloas, Haidopoulos, Dimitrios, Rodolakis, Alexandros, Dimopoulos, Meletios-Athanasios, Zagouri, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628789/
https://www.ncbi.nlm.nih.gov/pubmed/34898566
http://dx.doi.org/10.3390/curroncol28060377
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author Liontos, Michalis
Zografos, Eleni
Zoumpourlis, Panagiotis
Andrikopoulou, Angeliki
Svarna, Anna
Fiste, Oraianthi
Kunadis, Elena
Papatheodoridi, Alkistis Maria
Kaparelou, Maria
Koutsoukos, Konstantinos
Thomakos, Nikoloas
Haidopoulos, Dimitrios
Rodolakis, Alexandros
Dimopoulos, Meletios-Athanasios
Zagouri, Flora
author_facet Liontos, Michalis
Zografos, Eleni
Zoumpourlis, Panagiotis
Andrikopoulou, Angeliki
Svarna, Anna
Fiste, Oraianthi
Kunadis, Elena
Papatheodoridi, Alkistis Maria
Kaparelou, Maria
Koutsoukos, Konstantinos
Thomakos, Nikoloas
Haidopoulos, Dimitrios
Rodolakis, Alexandros
Dimopoulos, Meletios-Athanasios
Zagouri, Flora
author_sort Liontos, Michalis
collection PubMed
description Background: High grade serous ovarian carcinoma (HGSOC) is the most lethal type of epithelial ovarian cancer, with a prevalence of germline BRCA1/2 mutations as high as 20%. Our objective is to determine whether the location of mutations in the different domains of the BRCA1/2 genes affects the clinical outcome of HGSOC patients. Methods: A total of 51 women with BRCA1 or BRCA2 mutated ovarian cancer were identified. Progression-free survival (PFS) and overall survival (OS) were analyzed. Results: In our study cohort, 35 patients were carriers of germline mutations in BRCA1 and 16 in BRCA2. The median PFS time following completion of the primary therapy was 23.8 months (95% CI 20.1–27.5) and the median OS was 92.9 months (95% CI 69.8–116.1) in all BRCA carriers. After multivariate analysis, no significant association among the location or type of BRCA1/2 mutation with PFS or OS was identified. Notably, significant differences in PFS between carriers of identical mutations in the same BRCA gene were detected. Conclusions: Among HGSOC patients, BRCA1/2 carriers with mutations in different locations of the genes show no significant difference in survival outcomes, in terms of PFS and OS, suggesting the potential effect of other genetic abnormalities and co-contributing risk factors.
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spelling pubmed-86287892021-11-30 BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients Liontos, Michalis Zografos, Eleni Zoumpourlis, Panagiotis Andrikopoulou, Angeliki Svarna, Anna Fiste, Oraianthi Kunadis, Elena Papatheodoridi, Alkistis Maria Kaparelou, Maria Koutsoukos, Konstantinos Thomakos, Nikoloas Haidopoulos, Dimitrios Rodolakis, Alexandros Dimopoulos, Meletios-Athanasios Zagouri, Flora Curr Oncol Article Background: High grade serous ovarian carcinoma (HGSOC) is the most lethal type of epithelial ovarian cancer, with a prevalence of germline BRCA1/2 mutations as high as 20%. Our objective is to determine whether the location of mutations in the different domains of the BRCA1/2 genes affects the clinical outcome of HGSOC patients. Methods: A total of 51 women with BRCA1 or BRCA2 mutated ovarian cancer were identified. Progression-free survival (PFS) and overall survival (OS) were analyzed. Results: In our study cohort, 35 patients were carriers of germline mutations in BRCA1 and 16 in BRCA2. The median PFS time following completion of the primary therapy was 23.8 months (95% CI 20.1–27.5) and the median OS was 92.9 months (95% CI 69.8–116.1) in all BRCA carriers. After multivariate analysis, no significant association among the location or type of BRCA1/2 mutation with PFS or OS was identified. Notably, significant differences in PFS between carriers of identical mutations in the same BRCA gene were detected. Conclusions: Among HGSOC patients, BRCA1/2 carriers with mutations in different locations of the genes show no significant difference in survival outcomes, in terms of PFS and OS, suggesting the potential effect of other genetic abnormalities and co-contributing risk factors. MDPI 2021-11-03 /pmc/articles/PMC8628789/ /pubmed/34898566 http://dx.doi.org/10.3390/curroncol28060377 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Liontos, Michalis
Zografos, Eleni
Zoumpourlis, Panagiotis
Andrikopoulou, Angeliki
Svarna, Anna
Fiste, Oraianthi
Kunadis, Elena
Papatheodoridi, Alkistis Maria
Kaparelou, Maria
Koutsoukos, Konstantinos
Thomakos, Nikoloas
Haidopoulos, Dimitrios
Rodolakis, Alexandros
Dimopoulos, Meletios-Athanasios
Zagouri, Flora
BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients
title BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients
title_full BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients
title_fullStr BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients
title_full_unstemmed BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients
title_short BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients
title_sort brca1/2 mutation types do not affect prognosis in ovarian cancer patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628789/
https://www.ncbi.nlm.nih.gov/pubmed/34898566
http://dx.doi.org/10.3390/curroncol28060377
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