BRCA1和BRCA2致病变异人群患黑色素瘤的风险：一项系统综述和荟萃分析

IF 4.1 2区医学 Q1 OBSTETRICS & GYNECOLOGY

Gynecologic oncology Pub Date : 2025-09-11 DOI:10.1016/j.ygyno.2025.08.030

Nicole M. Frontera , Muhammad Danyal Ahsan , Isabelle R. Chandler , Sarah R. Levi , Jesse T. Brewer , Jessica M. Weiss , Xiaoyue Ma , Sarah T. Jewell , Ravi N. Sharaf , Melissa K. Frey

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引用次数: 0

摘要

背景BRCA1/2致病基因变异（PGVs）患者患乳腺癌、卵巢癌、胰腺癌和前列腺癌的风险增加，新出现的证据表明其与黑色素瘤有关。我们的目的是评估黑色素瘤相关性的强度，以指导癌症风险管理建议。方法：本系统评价和荟萃分析按照系统评价和荟萃分析指南的首选报告项目（PROSPERO no. 5）进行报告。: CRD42024519298)。检索了关键的电子数据库，以确定评估黑色素瘤与种系BRCA1/2 PGV状态之间关系的研究。对符合条件的研究的数据进行meta分析。结果本综述纳入39项研究。在7142例黑色素瘤患者中，BRCA1/2 PGVs的总患病率为1.7% （95% CI 1.1% - 2.6%）。在2340名黑色素瘤患者中，与116501名对照组相比，BRCA1/2 PGV的合并优势比（OR）为2.8 (95% CI 1.5-5.4), BRCA1 （3.2 [95% CI 1.6-6.3]）和BRCA2 （2.8 [95% CI 1.2-6.6]）的独立优势比相似。在14293名BRCA1/2 PGV携带者中，1.3% （95% CI 0.9-1.8）发展为黑色素瘤。11154名BRCA1 PGV携带者患黑色素瘤的风险与11553名对照没有差异（OR 1.0 [95% CI 0.3-3.6]），没有足够的数据对BRCA2的风险进行meta分析。我们的荟萃分析表明，与对照组相比，黑色素瘤患者携带BRCA1或BRCA2 PGV的总OR为2.84；然而，有限的数据表明，BRCA1 PGV携带者与对照组相比，患黑色素瘤的相对风险没有差异，BRCA2 PGV携带者的相对风险数据不足。这些结果表明，尽管BRCA1/2 PGVs可能与黑色素瘤有关，但风险增加的幅度可能相对较低。设计良好的队列研究是必要的，以进一步调查BRCA1/2 PGV携带者的黑色素瘤风险程度，提供者在咨询患者时应考虑到这一潜在风险。

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Risk of melanoma among people with BRCA1 and BRCA2 pathogenic variants: A systematic review and meta-analysis

Background

Patients with BRCA1/2 pathogenic gene variants (PGVs) have an increased risk for breast, ovarian, pancreatic, and prostate cancer, with emerging evidence suggesting an association with melanoma. We aim to evaluate the strength of the melanoma association to guide cancer risk-management recommendations.

Methods

This systematic review and meta-analysis is reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PROSPERO no.: CRD42024519298). Key electronic databases were searched to identify studies evaluating the association of melanoma with germline BRCA1/2 PGV status. Data from eligible studies were meta-analyzed.

Results

Thirty-nine studies were included in this review. Among 7142 patients with melanoma, the pooled prevalence of BRCA1/2 PGVs was 1.7 % (95 % CI 1.1 % - 2.6 %). Among 2340 patients with melanoma compared to 116,501 controls, the pooled odds ratio (OR) of having a BRCA1/2 PGV was 2.8 (95 % CI 1.5–5.4), with similar ORs for BRCA1 (3.2 [95 % CI 1.6–6.3]) and BRCA2 (2.8 [95 % CI 1.2–6.6]) independently. Of 14,293 BRCA1/2 PGV carriers, 1.3 % (95 % CI 0.9–1.8) developed melanoma. The risk of melanoma among 11,154 BRCA1 PGV carriers was not different to that among 11,553 controls (OR 1.0 [95 % CI 0.3–3.6]), with insufficient data to meta-analyze risk for BRCA2.

Conclusions

Our meta-analysis demonstrates that individuals with melanoma have a pooled OR of 2.84 for carrying a BRCA1 or BRCA2 PGV compared to controls; however, limited data suggest no difference in the relative risk of developing melanoma among BRCA1 PGV carriers compared to controls, with insufficient data for relative risk with BRCA2 PGV. These results suggest that although BRCA1/2 PGVs may be associated with melanoma, the magnitude of increased risk is likely relatively low. Well-designed cohort studies are warranted to further investigate the magnitude of melanoma risk among BRCA1/2 PGV carriers and providers should consider this potential risk when counseling patients.

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来源期刊

Gynecologic oncology 医学-妇产科学

CiteScore

8.60

自引率

6.40%

发文量

1062

审稿时长

37 days

期刊介绍： Gynecologic Oncology, an international journal, is devoted to the publication of clinical and investigative articles that concern tumors of the female reproductive tract. Investigations relating to the etiology, diagnosis, and treatment of female cancers, as well as research from any of the disciplines related to this field of interest, are published. Research Areas Include: • Cell and molecular biology • Chemotherapy • Cytology • Endocrinology • Epidemiology • Genetics • Gynecologic surgery • Immunology • Pathology • Radiotherapy