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评估沙特女性中 BRCA 突变型卵巢癌的频率和临床结局。

Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

机构信息

Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Northern Ireland Cancer Centre, Belfast City Hospital- Belfast- the UK, 66 Finaghy Road South, Belfast, BT10 0DE, UK.

出版信息

BMC Cancer. 2022 Jan 3;22(1):18. doi: 10.1186/s12885-021-09123-6.

Abstract

PURPOSE

BRCA gene mutations (BRCAm) have an impact on patients' characteristics and clinical outcomes of ovarian cancer (OC). The frequency and patterns of BRCAm vary among countries and ethnicities. There are limited data from Saudi Arabia (SA); thus, this study aims to determine the frequency, pattern, and impact on patient characteristics and outcomes of BRCAm OC compared to wild-type BRCA (BRCAw) in Saudi women.

METHODS

This retrospective study evaluated women diagnosed with non-mucinous OC, fallopian tube, or peritoneal carcinoma who had BRCA status tested in an accredited lab between January 2016 and December 2017. The associations between various parameters and BRCAm were estimated using logistic regression. Statistical analysis performed with SPSS (Version 27).

RESULT

Sixty-one women with a median age of 52 at diagnosis were analyzed. Germline BRCA mutations were found in 41% of cases (25/61). The most common deleterious germline BRCA1 mutation was c.1140dupG (39%). Most women (72%) had no family history of cancers and 82% had advanced stage. Regardless of BRCA mutations, an optimal overall response rate (ORR) to first-line treatment has been achieved although most cases relapsed (84%) and the majority were platinum-sensitive relapse (85%). Higher ORR to subsequent lines and better survival were obtained in women with BRCA-mutation.

CONCLUSION

The prevalence of BRCAm of OC was higher in Saudi women compared to regional and most of the international figures. The better clinical outcomes of BRCAm women agreed with the reported evidence. Further studies on BRCA mutations of OC and genetic counseling are highly recommended.

TRIAL REGISTRATION

Trial approved by the Institutional Review Board of King Faisal Specialist Hospital and Research Center (RAC # 2171137) and conducted at King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11,211, Saudi Arabia.

摘要

目的

BRCA 基因突变(BRCAm)会影响卵巢癌(OC)患者的特征和临床结局。BRCAm 在不同国家和种族之间的频率和模式有所不同。沙特阿拉伯(SA)的数据有限;因此,本研究旨在确定与野生型 BRCA(BRCAw)相比,沙特女性中 BRCAmOC 的频率、模式及其对患者特征和结局的影响。

方法

本回顾性研究评估了 2016 年 1 月至 2017 年 12 月期间在一家认可的实验室检测 BRCA 状态的诊断为非粘液性 OC、输卵管或腹膜癌的女性。使用逻辑回归估计各种参数与 BRCAm 之间的关联。使用 SPSS(版本 27)进行统计分析。

结果

对 61 名中位年龄为 52 岁的患者进行了分析。发现 41%的病例存在种系 BRCA 突变(25/61)。最常见的有害种系 BRCA1 突变是 c.1140dupG(39%)。大多数女性(72%)没有癌症家族史,82%为晚期。无论 BRCA 突变与否,一线治疗的总缓解率(ORR)都已达到,尽管大多数病例复发(84%),大多数为铂类敏感复发(85%)。BRCA 突变女性的后续线 ORR 和生存更好。

结论

与区域和大多数国际数据相比,沙特女性 OC 中 BRCAm 的患病率更高。BRCAm 女性的更好临床结局与已报道的证据一致。强烈建议对 OC 的 BRCA 突变和遗传咨询进行进一步研究。

试验注册

该试验得到了国王法伊萨尔专科医院和研究中心机构审查委员会的批准(RAC#2171137),并在沙特阿拉伯利雅得的国王法伊萨尔专科医院和研究中心进行(PO 箱 3354,邮编 11211)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccfe/8722352/79cfc7f35a76/12885_2021_9123_Fig1_HTML.jpg

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