约有20%的卵巢癌是由潜在的生殖细胞致病变体引起的。虽然多个基因的致病变体在遗传性卵巢癌的发展中已得到充分证实（例如BRCA1/2、RAD51C、RAD51D、BRIP1、错配修复基因），但伴侣与定位蛋白2（PALB2）的作用仍不确定。本研究旨在利用荟萃分析评估PALB2生殖细胞致病变体与卵巢癌的关联关系。 我们进行了系统评价和荟萃分析。我们搜索了主要的电子数据库，以找到评估卵巢癌患者多基因面板检测的研究。符合条件的试验经过荟萃分析。 共有55项研究符合纳入标准，包括48,194名患有卵巢癌的人，并提供了关于PALB2生殖细胞致病变体状态的信息。在患有卵巢癌并可获得PALB2测序数据的人群中，0.4% [95% CI 0.3-0.4]携带PALB2基因的生殖细胞致病变体。经过生殖细胞检测的20,474名卵巢癌人群相对于123,883名对照个体，携带PALB2致病变体的合并比值比（OR）为2.48 [95% CI 1.57-3.90]。 我们的荟萃分析显示，在患有卵巢癌的人群中，携带PALB2基因生殖细胞致病变体的合并比值比（OR）相对于一般人群为2.48 [95% CI 1.57-3.90]。值得注意的是，有必要进行前瞻性研究评估PALB2生殖细胞致病变体在卵巢癌发展中的作用。 Copyright © 2023. Elsevier公司出版。

Approximately 20% of ovarian cancers are due to an underlying germline pathogenic variant. While pathogenic variants in several genes have been well-established in the development of hereditary ovarian cancer (e.g. BRCA1/2, RAD51C, RAD51D, BRIP1, mismatch repair genes), the role of partner and localizer of BRCA2 (PALB2) remains uncertain. We sought to utilize meta-analysis to evaluate the association between PALB2 germline pathogenic variants and ovarian cancer.We conducted a systematic review and meta-analysis. We searched key electronic databases to identify studies evaluating multigene panel testing in people with ovarian cancer. Eligible trials were subjected to meta-analysis.Fifty-five studies met inclusion criteria, including 48,194 people with ovarian cancer and information available on germline PALB2 pathogenic variant status. Among people with ovarian cancer and available PALB2 sequencing data, 0.4% [95% CI 0.3-0.4] harbored a germline pathogenic variant in the PALB2 gene. The pooled odds ratio (OR) for carrying a PALB2 pathogenic variant among the ovarian cancer population of 20,474 individuals who underwent germline testing was 2.48 [95% CI 1.57-3.90] relative to 123,883 controls.Our meta-analysis demonstrates that the pooled OR for harboring a PALB2 germline pathogenic variant among people with ovarian cancer compared to the general population is 2.48 [95% CI 1.57-3.90]. Prospective studies evaluating the role of germline PALB2 pathogenic variants in the development of ovarian cancer are warranted.Copyright © 2023. Published by Elsevier Inc.