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Endometrial Cancer and BRCA Mutations: A Systematic Review

This systematic review identifies, evaluates, and summarises the findings of all relevant individual studies on the prevalence of BRCA mutation (BRCAm) in endometrial cancer patients and the incidence of endometrial cancer in BRCAm women patients. Consequently, the benefits and limits of a prophylac...

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Autores principales: Gasparri, Maria Luisa, Bellaminutti, Serena, Farooqi, Ammad Ahmad, Cuccu, Ilaria, Di Donato, Violante, Papadia, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9181458/
https://www.ncbi.nlm.nih.gov/pubmed/35683509
http://dx.doi.org/10.3390/jcm11113114
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author Gasparri, Maria Luisa
Bellaminutti, Serena
Farooqi, Ammad Ahmad
Cuccu, Ilaria
Di Donato, Violante
Papadia, Andrea
author_facet Gasparri, Maria Luisa
Bellaminutti, Serena
Farooqi, Ammad Ahmad
Cuccu, Ilaria
Di Donato, Violante
Papadia, Andrea
author_sort Gasparri, Maria Luisa
collection PubMed
description This systematic review identifies, evaluates, and summarises the findings of all relevant individual studies on the prevalence of BRCA mutation (BRCAm) in endometrial cancer patients and the incidence of endometrial cancer in BRCAm women patients. Consequently, the benefits and limits of a prophylactic hysterectomy at the time of the risk-reducing salpingo-oophorectomy are analysed and discussed. A systematic literature search was performed in the databases of PubMed, Cochrane, and Web of Science until May 2022; 13 studies met the eligibility criteria. Overall, 1613 endometrial cancer patients from 11 cohorts were tested for BRCA1/2 mutation. BRCA1/2m were identified in 4.3% of women with endometrial cancer (70/1613). BRCA1m was the most represented (71.4%) pathogenic variant. Alongside, a total of 209 BRCAm carriers from 14 studies were diagnosed with endometrial cancer. Only 5 out of 14 studies found a correlation between BRCAm and an increased risk of endometrial cancer. Nevertheless, two studies found a statistical difference only for BRCA1m women. The present systematic review does not provide strong evidence in favour of performing routine hysterectomy at the time of risk-reducing salpingo-oophorectomy; however, it provides epidemiological data that can be useful for counselling patients in order to offer a tailored approach.
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spelling pubmed-91814582022-06-10 Endometrial Cancer and BRCA Mutations: A Systematic Review Gasparri, Maria Luisa Bellaminutti, Serena Farooqi, Ammad Ahmad Cuccu, Ilaria Di Donato, Violante Papadia, Andrea J Clin Med Systematic Review This systematic review identifies, evaluates, and summarises the findings of all relevant individual studies on the prevalence of BRCA mutation (BRCAm) in endometrial cancer patients and the incidence of endometrial cancer in BRCAm women patients. Consequently, the benefits and limits of a prophylactic hysterectomy at the time of the risk-reducing salpingo-oophorectomy are analysed and discussed. A systematic literature search was performed in the databases of PubMed, Cochrane, and Web of Science until May 2022; 13 studies met the eligibility criteria. Overall, 1613 endometrial cancer patients from 11 cohorts were tested for BRCA1/2 mutation. BRCA1/2m were identified in 4.3% of women with endometrial cancer (70/1613). BRCA1m was the most represented (71.4%) pathogenic variant. Alongside, a total of 209 BRCAm carriers from 14 studies were diagnosed with endometrial cancer. Only 5 out of 14 studies found a correlation between BRCAm and an increased risk of endometrial cancer. Nevertheless, two studies found a statistical difference only for BRCA1m women. The present systematic review does not provide strong evidence in favour of performing routine hysterectomy at the time of risk-reducing salpingo-oophorectomy; however, it provides epidemiological data that can be useful for counselling patients in order to offer a tailored approach. MDPI 2022-05-31 /pmc/articles/PMC9181458/ /pubmed/35683509 http://dx.doi.org/10.3390/jcm11113114 Text en © 2022 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 Systematic Review
Gasparri, Maria Luisa
Bellaminutti, Serena
Farooqi, Ammad Ahmad
Cuccu, Ilaria
Di Donato, Violante
Papadia, Andrea
Endometrial Cancer and BRCA Mutations: A Systematic Review
title Endometrial Cancer and BRCA Mutations: A Systematic Review
title_full Endometrial Cancer and BRCA Mutations: A Systematic Review
title_fullStr Endometrial Cancer and BRCA Mutations: A Systematic Review
title_full_unstemmed Endometrial Cancer and BRCA Mutations: A Systematic Review
title_short Endometrial Cancer and BRCA Mutations: A Systematic Review
title_sort endometrial cancer and brca mutations: a systematic review
topic Systematic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9181458/
https://www.ncbi.nlm.nih.gov/pubmed/35683509
http://dx.doi.org/10.3390/jcm11113114
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