BRCA Mutation Patients: Are There Other Predisposing Factors for Ovarian Cancer Occurrence? A Multicenter Retrospective Study.

IF 2 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Gynecologic and Obstetric Investigation Pub Date : 2024-01-01 Epub Date: 2024-01-19 DOI:10.1159/000535012
Vera Loizzi, Michele Mongelli, Francesca Arezzo, Isabella Romagno, Gerardo Cazzato, Ondina Popescu, Francesco Legge, Paolo Trerotoli, Erica Silvestris, Anila Kardhashi, Gennaro Cormio
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引用次数: 0

Abstract

Objectives: The objective of this multicenter retrospective study aimed to evaluate the association of clinical variables and the incidence of ovarian cancer in patients with BRCA 1-2 mutation carriers who underwent risk-reducing salpingo-oophorectomy (RRSO).

Design: Patients with a pathogenic mutation of BRCA 1-2 genes and with no evidence of disease are considered eligible. The exclusion criterion was the refusal to undergo the surgery. The retrospective study included all RRSO performed from May 2015 to April 2022 in the three gynecological Institutions of Southern Italy for were included in this retrospective study.

Participants/materials, setting, methods: Age, menarche age, BMI, menopause at time of RRSO, breast cancer first- and second-degree relatives, ovarian cancer first- and second-degree relatives, estroprogestin use, pregnancy normal full-term delivery, history of endometriosis, previous breast cancer and histologic type, previous abdominal/pelvic surgery, BRCA 1 or BRCA 2 status, preoperative serum CA-125 levels (IU/mL), age at time of RRSO and histological analysis were collected.

Results: 184 were recruited. One was excluded. To assess cancer risk, the outcome variable was classified into three classes: no event, cancer, and other conditions excluding cancer. 14 women presented ovarian cancer and tubal intraepithelial carcinoma (STIC) on histopathologic final report. Ovarian cancer was found in 8 patients, whereas the presence of STIC was found in 6 of them.

Limitations: The low incidence of patients diagnosed with ovarian cancer or STIC compared with the total number of patients undergoing RRSO is a potential bias.

Conclusions: Our study did not demonstrate a correlation between clinical features and the occurrence of precancerous or cancerous lesions in BRCA mutation carrier patients.

BRCA 基因突变患者:卵巢癌的发生还有其他易感因素吗?一项多中心回顾性研究。
研究目的这项多中心回顾性研究旨在评估接受降低风险的输卵管切除术的 BRCA 1-2 基因突变携带者的临床变量与卵巢癌发病率之间的关系:设计:BRCA 1-2 基因致病突变且无疾病证据的患者均符合条件。排除标准是拒绝接受手术。回顾性研究包括2015年5月至2022年4月在意大利南部三家妇科机构进行的所有降低风险输卵管切除术(RRSO):收集年龄、初潮年龄、体重指数、RRSO时的绝经时间、乳腺癌一级和二级亲属、卵巢癌一级和二级亲属、雌激素使用情况、妊娠正常足月分娩、子宫内膜异位症病史、既往乳腺癌和组织学类型、既往腹部/盆腔手术、BRCA 1或BRCA 2状态、术前血清CA-125水平(IU/ml)、RRSO时的年龄以及组织学分析:结果:共招募了 184 人。结果:共招募了 184 人,其中一人被排除在外。为了评估癌症风险,结果变量被分为三类:无事件、癌症和不包括癌症的其他情况。在组织病理学最终报告中,有 14 名妇女患有卵巢癌和输卵管上皮内癌(STIC)。其中 8 名患者发现卵巢癌,6 名患者发现输卵管上皮内癌。局限性 与接受 RRSO 的患者总数相比,确诊为卵巢癌或 STIC 的患者发生率较低,这可能会造成偏差:我们的研究并未证明 BRCA 基因突变携带者的临床特征与癌前病变或癌病变的发生之间存在相关性。
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来源期刊
CiteScore
4.20
自引率
4.80%
发文量
44
审稿时长
6-12 weeks
期刊介绍: This journal covers the most active and promising areas of current research in gynecology and obstetrics. Invited, well-referenced reviews by noted experts keep readers in touch with the general framework and direction of international study. Original papers report selected experimental and clinical investigations in all fields related to gynecology, obstetrics and reproduction. Short communications are published to allow immediate discussion of new data. The international and interdisciplinary character of this periodical provides an avenue to less accessible sources and to worldwide research for investigators and practitioners.
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