犹太BRCA1/BRCA2基因突变携带者中降低风险的输卵管卵巢切除术与乳腺癌发病率——一项以色列配对研究

Risk-reducing salpingo-oophorectomy and breast cancer incidence among Jewish BRCA1/BRCA2-mutation carriers-an Israeli matched-pair study.

作者信息

Perri Tamar, Levin Gabriel, Naor-Revel Shani, Eliassi-Revivo Perry, Lifshitz Dror, Friedman Eitan, Korach Jacob

机构信息

Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Department of Gynecologic Oncology, Hadassah Medical Center, Jerusalem, Israel.

出版信息

Int J Gynaecol Obstet. 2022 May;157(2):431-436. doi: 10.1002/ijgo.13843. Epub 2021 Aug 18.

DOI:10.1002/ijgo.13843

PMID:34324701

Abstract

OBJECTIVE

To study the association of risk-reducing bilateral salpingo-oophorectomy (RRBSO) and breast cancer risk among BRCA pathogenic sequence variants (PSV).

METHODS

Jewish Israeli BRCA carriers who underwent RRBSO were matched with those who did not-by the mutated gene and year of birth (±1 year). Breast cancer rates were compared.

RESULTS

Overall, 127 pairs met the inclusion criteria, 79 (60.6%) pairs harbored BRCA1 PSV and 50 (39.4%) pairs harbored BRCA2 PSV. Median follow up was 8.7 years (interquartile range 4.6-16.1 years). Breast cancer rate for all BRCA carriers combined was not affected by RRBSO (RRBSO 21 [16.5%] versus no RRBSO 31 [24.4%], hazard ratio [HR] for breast cancer 0.61, 95% confidence interval [CI] 0.33-1.14, P = 0.127). No association between RRBSO and breast cancer incidence was noted among BRCA1 PSV carriers. In BRCA2 PSV carriers, RRBSO was associated with a decreased overall breast cancer incidence (HR 0.20, 95% CI 0.44-0.91, P = 0.038), as well as after 5, 10, 15, and 20 years. Hormone replacement therapy was used by 62 PSV carriers, 52 in the RRBSO group and 10 in the no-RRBSO group and did not affect breast cancer risk (P = 0.463).

CONCLUSION

RRBSO is associated with breast cancer risk reduction in Jewish Israeli BRCA2 PSV carriers. Risk-reducing bilateral salpingo-oophorectomy was associated with breast cancer risk reduction in Jewish Israeli BRCA2 pathogenic sequence variant carriers.

摘要

目的

研究携带BRCA致病序列变异（PSV）的女性行降低风险的双侧输卵管卵巢切除术（RRBSO）与乳腺癌风险之间的关联。

方法

将接受RRBSO的以色列犹太裔BRCA携带者与未接受该手术的携带者，按照突变基因和出生年份（±1年）进行匹配。比较两组的乳腺癌发病率。

结果

总体上，127对符合纳入标准，其中79对（60.6%）携带BRCA1 PSV，50对（39.4%）携带BRCA2 PSV。中位随访时间为8.7年（四分位间距4.6 - 16.1年）。所有BRCA携带者的乳腺癌发病率不受RRBSO影响（RRBSO组21例[16.5%]，未行RRBSO组31例[24.4%]，乳腺癌风险比[HR]为0.61，95%置信区间[CI]为0.33 - 1.14，P = 0.127）。在携带BRCA1 PSV的携带者中，未发现RRBSO与乳腺癌发病率之间存在关联。在携带BRCA2 PSV的携带者中，RRBSO与总体乳腺癌发病率降低相关（HR 0.20，95% CI 0.44 - 0.91，P = 0.038），在5年、10年、15年和20年后亦是如此。62例PSV携带者使用了激素替代疗法，其中RRBSO组52例，未行RRBSO组10例，激素替代疗法未影响乳腺癌风险（P = 0.463）。