探讨PALB2基因胚系突变在中国女性乳腺癌患者当中的携带率，评估它的致病风险、它和临床病理特征的相关性。

系统检索中英文数据库，收集2024年之前发表的中国人群PALB2基因突变研究。一共纳入12项研究，总计15 824名女性中国乳腺癌患者、13 505例女性对照人群。对文献数据进行荟萃分析，计算汇总突变携带率、风险比值比、和临床特征的关联强度。主要效应指标为PALB2突变携带率、它的风险比值比，都计算它的95%CI。运用I²统计量来评估研究间异质性。P<0.05代表差异有统计学意义。

汇总分析显示，中国女性乳腺癌患者PALB2致病、可能致病变异PV/LPV的总携带率为1.3%（95%CI: 1.09%-1.44%），在极大程度上高于对照组健康人群的0.2%（95%CI: 0.15%-0.32%），它的携带者罹患乳腺癌的合并风险比高达6.8（95%CI: 4.210-11.120, P<0.001）。在家族性、早发性乳腺癌亚组当中，携带率提高至2.2%。和未携带者相比，PALB2突变携带者当中组织学分级Ⅲ级、Ki-67高表达即≥20%的比例均更高（P<0.05），平均诊断年龄低于未携带者并且一级亲属乳腺癌家族史比例更高（P<0.05）。在PALB2突变携带者当中，三阴性乳腺癌的比例拥有高于未携带者的趋势，不过差异不具备统计学意义，P＞0.05。

PALB2是中国女性重要的乳腺癌当中的中高外显率易感基因，它的胚系突变可以极大程度上提高乳腺癌风险，并且和部分侵袭性临床病理特性相关。

To investigate the carrier rate of PALB2 gene germline mutations in Chinese female breast cancer patients, assess their pathogenic risk, and explore the correlation between these mutations and clinical pathological characteristics.

Systematic searches were conducted in both Chinese and English databases to collect studies on PALB2 gene mutations in the Chinese population published before 2024. A total of 12 studies were included, involving 15 824 female Chinese breast cancer patients and 13 505 female control subjects. The literature data were subjected to meta-analysis to calculate the pooled mutation carrier rate, risk ratio, and the strength of association with clinical characteristics. The primary effect indicators were the PALB2 mutation carrier rate and its risk ratio, both of which were calculated with 95%CI. The I² statistic was used to evaluate the heterogeneity among studies. P<0.05 was considered statistically significant

The pooled analysis showed that the total carrier rate of pathogenic/likely pathogenic mutations (PV/LPV) of PALB2 in Chinese female breast cancer patients was 1.3% (95%CI: 1.09%-1.44%), significantly higher than that of the control group of healthy individuals (0.2% (95%CI: 0.15%-0.32%)), and the combined risk ratio for developing breast cancer among carriers was as high as 6.8 (95%CI: 4.210-11.120, P<0.001). In the familial/early-onset breast cancer subgroup, the carrier rate increased to 2.2%. Compared with non-carriers, the proportions of grade 11 histological grading and high Ki-67 expression (>20%) were significantly higher in PALB2 mutation carriers (P<0.05); the average diagnosis age was significantly lower than that of non-carriers and the proportion of first-degree relatives with a history of breast cancer was higher (P<0.05); in PALB2 mutation carriers, there was a trend of higher proportion of triple-negative breast cancer compared to non-carriers, but the difference was not statistically significant (P>0.05).

PALB2 is an important breast cancer susceptibility gene with a high penetrance in Chinese women. Its germline mutations can significantly increase the risk of breast cancer and are associated with some invasive clinical pathological features.