文章：

携带BRCA1/2种系致病性变异女性中除乳腺癌和卵巢癌外其他恶性肿瘤的发生情况

Occurrence of Malignancies Other than Breast and Ovarian Cancer in Female Carriers of aBRCA1/2Germline Pathogenic Variant

原文发布日期：17 May 2025

DOI: 10.3390/cancers17101687

类型: Article

开放获取: 是

英文摘要：

Introduction: Previous studies have suggested an additional increased risk for types of malignancies other than breast and ovarian cancer for femaleBRCA1/2GPV carriers, but risk estimates vary widely. The aim of this study was to investigate if femaleBRCA1/2GPV carriers have an increased risk of malignancies other than breast and tubal/ovarian cancer at an early age. Methods: Prospectively collected data from femaleBRCA1/2GPV carriers in our hospital-based data/biobank were linked to the PALGA Dutch Pathology Database. Incidences of malignancies occurring before 60 years of age were compared to crude rates/100.000 person-years in the Netherlands, stratified by age and calendar time. Standardized incidence ratios (SIRs) were calculated with 95% confidence intervals (95%CIs). Results: In 1347 women, 82 malignancies other than breast and tubal/ovarian cancer were detected in patients under 60 years of age in 37,068 person-years. An increased risk of cancer in general (SIR:2.25, 95%CI:1.78–2.80,p< 0.001), head and neck cancer (SIR:3.17, 95%CI:1.03–7.39,p< 0.05), gastrointestinal cancer (SIR:1.96, 95%CI:1.14–3.13,p< 0.05), and female genital cancer (SIR:2.48, 95%CI:1.61–3.65,p< 0.001) was found. Conclusions: If confirmed in larger, prospective studies that include the role of bias and previous cancer treatment, awareness of the possible increased risks of head and neck, gastrointestinal, and female genital cancer may be used to tailor clinical guidelines for femaleBRCA1/2GPV carriers.

摘要翻译： 

引言：既往研究表明，携带BRCA1/2基因致病性变异的女性除乳腺癌和卵巢癌外，罹患其他类型恶性肿瘤的风险可能进一步增加，但相关风险估计值存在较大差异。本研究旨在探讨携带BRCA1/2基因致病性变异的女性是否在较年轻时即存在除乳腺癌及输卵管/卵巢癌外的其他恶性肿瘤风险升高。方法：将我院临床数据库/生物样本库前瞻性收集的女性BRCA1/2基因致病性变异携带者数据与荷兰病理学数据库（PALGA）进行关联分析。通过年龄与日历时间分层，比较60岁前恶性肿瘤发病率与荷兰地区每10万人年粗发病率，计算标准化发病率比值及其95%置信区间。结果：在1347名女性携带者共计37,068人年的随访中，共检出82例60岁前发生的非乳腺及输卵管/卵巢恶性肿瘤。研究发现总体癌症风险显著升高（标准化发病率比值：2.25，95%置信区间：1.78–2.80，p<0.001），其中头颈部癌（标准化发病率比值：3.17，95%置信区间：1.03–7.39，p<0.05）、胃肠道癌（标准化发病率比值：1.96，95%置信区间：1.14–3.13，p<0.05）及女性生殖系统癌（标准化发病率比值：2.48，95%置信区间：1.61–3.65，p<0.001）风险尤为显著。结论：若后续更大规模的前瞻性研究（需纳入偏倚及既往癌症治疗影响）能证实该发现，则对头颈部、胃肠道及女性生殖系统癌症风险升高的认知，可为制定针对女性BRCA1/2基因致病性变异携带者的个体化临床指南提供依据。

原文链接：

Occurrence of Malignancies Other than Breast and Ovarian Cancer in Female Carriers of aBRCA1/2Germline Pathogenic Variant