Miriam Dellino, Antonio D'Amato, Gaia Battista, Gennaro Cormio, Antonella Vimercati, Vera Loizzi, Antonio Simone Laganà, Gianluca Raffaello Damiani, Alessandro Favilli, Sandro Gerli, Daniele La Forgia, Antonella Daniele, Vittorio Agrifoglio, Ettore Cicinelli, Amerigo Vitagliano, Andrea Etrusco
{"title":"BRCA 1/2种系突变妇女的生殖结局：一项回顾性观察研究和文献综述。","authors":"Miriam Dellino, Antonio D'Amato, Gaia Battista, Gennaro Cormio, Antonella Vimercati, Vera Loizzi, Antonio Simone Laganà, Gianluca Raffaello Damiani, Alessandro Favilli, Sandro Gerli, Daniele La Forgia, Antonella Daniele, Vittorio Agrifoglio, Ettore Cicinelli, Amerigo Vitagliano, Andrea Etrusco","doi":"10.1515/med-2024-9999","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the reproductive outcomes of patients bearing BRCA-1 and BRCA-2 mutations.</p><p><strong>Methods: </strong>In this retrospective observational cohort study, we assessed data from BRCA-1 and BRCA-2 carriers, analyzing demographics, oncological history, and reproductive outcomes. Statistical analysis compared BRCA-1 and BRCA-2 carriers. A thorough review of the literature was carried out.</p><p><strong>Results: </strong>Fifty-eight patients were included. BRCA-1 and BRCA-2 mutations were equally distributed. Eighty-nine pregnancies occurred in our series, hesitated in 73 live births and 19 miscarriages. Mean age at first and last pregnancy was 27.8 ± 4.8 and 31.6 ± 4.8 years old. Thirty-nine patients have had at least one live birth (67.2%). Mean number of live births was 1.9 ± 0.6. Live birth rate (LBR) was 81.1% and miscarriage rate was 32.8%. Spontaneous fertility was unaltered, as evidenced by high LBR. Subgroup analysis revealed no significant differences between BRCA-1 and BRCA-2 carriers.</p><p><strong>Conclusions: </strong>Our results shows that spontaneous reproductive outcomes in BRCA-mutated patients are reassuring. Despite evidence indicating a decrease in ovarian reserve among BRCA patients, this factor seems to not impact spontaneous fertility negatively. Further research is needed, and individuals with BRCA mutations should consider early family planning and fertility preservation in case of partner absence.</p>","PeriodicalId":19715,"journal":{"name":"Open Medicine","volume":"19 1","pages":"20249999"},"PeriodicalIF":1.7000,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340857/pdf/","citationCount":"0","resultStr":"{\"title\":\"Reproductive outcomes in women with BRCA 1/2 germline mutations: A retrospective observational study and literature review.\",\"authors\":\"Miriam Dellino, Antonio D'Amato, Gaia Battista, Gennaro Cormio, Antonella Vimercati, Vera Loizzi, Antonio Simone Laganà, Gianluca Raffaello Damiani, Alessandro Favilli, Sandro Gerli, Daniele La Forgia, Antonella Daniele, Vittorio Agrifoglio, Ettore Cicinelli, Amerigo Vitagliano, Andrea Etrusco\",\"doi\":\"10.1515/med-2024-9999\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To evaluate the reproductive outcomes of patients bearing BRCA-1 and BRCA-2 mutations.</p><p><strong>Methods: </strong>In this retrospective observational cohort study, we assessed data from BRCA-1 and BRCA-2 carriers, analyzing demographics, oncological history, and reproductive outcomes. Statistical analysis compared BRCA-1 and BRCA-2 carriers. A thorough review of the literature was carried out.</p><p><strong>Results: </strong>Fifty-eight patients were included. BRCA-1 and BRCA-2 mutations were equally distributed. Eighty-nine pregnancies occurred in our series, hesitated in 73 live births and 19 miscarriages. Mean age at first and last pregnancy was 27.8 ± 4.8 and 31.6 ± 4.8 years old. Thirty-nine patients have had at least one live birth (67.2%). Mean number of live births was 1.9 ± 0.6. Live birth rate (LBR) was 81.1% and miscarriage rate was 32.8%. Spontaneous fertility was unaltered, as evidenced by high LBR. Subgroup analysis revealed no significant differences between BRCA-1 and BRCA-2 carriers.</p><p><strong>Conclusions: </strong>Our results shows that spontaneous reproductive outcomes in BRCA-mutated patients are reassuring. Despite evidence indicating a decrease in ovarian reserve among BRCA patients, this factor seems to not impact spontaneous fertility negatively. Further research is needed, and individuals with BRCA mutations should consider early family planning and fertility preservation in case of partner absence.</p>\",\"PeriodicalId\":19715,\"journal\":{\"name\":\"Open Medicine\",\"volume\":\"19 1\",\"pages\":\"20249999\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-08-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340857/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Open Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1515/med-2024-9999\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Open Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1515/med-2024-9999","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Reproductive outcomes in women with BRCA 1/2 germline mutations: A retrospective observational study and literature review.
Objective: To evaluate the reproductive outcomes of patients bearing BRCA-1 and BRCA-2 mutations.
Methods: In this retrospective observational cohort study, we assessed data from BRCA-1 and BRCA-2 carriers, analyzing demographics, oncological history, and reproductive outcomes. Statistical analysis compared BRCA-1 and BRCA-2 carriers. A thorough review of the literature was carried out.
Results: Fifty-eight patients were included. BRCA-1 and BRCA-2 mutations were equally distributed. Eighty-nine pregnancies occurred in our series, hesitated in 73 live births and 19 miscarriages. Mean age at first and last pregnancy was 27.8 ± 4.8 and 31.6 ± 4.8 years old. Thirty-nine patients have had at least one live birth (67.2%). Mean number of live births was 1.9 ± 0.6. Live birth rate (LBR) was 81.1% and miscarriage rate was 32.8%. Spontaneous fertility was unaltered, as evidenced by high LBR. Subgroup analysis revealed no significant differences between BRCA-1 and BRCA-2 carriers.
Conclusions: Our results shows that spontaneous reproductive outcomes in BRCA-mutated patients are reassuring. Despite evidence indicating a decrease in ovarian reserve among BRCA patients, this factor seems to not impact spontaneous fertility negatively. Further research is needed, and individuals with BRCA mutations should consider early family planning and fertility preservation in case of partner absence.
期刊介绍：
Open Medicine is an open access journal that provides users with free, instant, and continued access to all content worldwide. The primary goal of the journal has always been a focus on maintaining the high quality of its published content. Its mission is to facilitate the exchange of ideas between medical science researchers from different countries. Papers connected to all fields of medicine and public health are welcomed. Open Medicine accepts submissions of research articles, reviews, case reports, letters to editor and book reviews.
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