Occurrence of Malignancies Other than Breast and Ovarian Cancer in Female Carriers of a BRCA1/2 Germline Pathogenic Variant.

IF 4.5 2区医学 Q1 ONCOLOGY

Cancers Pub Date : 2025-05-17 DOI:10.3390/cancers17101687

Annechien Stuursma, Bert van der Vegt, Lieke P V Berger, Maaike B C Ten Hoor, Jan C Oosterwijk, Marian J E Mourits, Geertruida H de Bock

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引用次数: 0

Abstract

Introduction: Previous studies have suggested an additional increased risk for types of malignancies other than breast and ovarian cancer for female BRCA1/2 GPV carriers, but risk estimates vary widely. The aim of this study was to investigate if female BRCA1/2 GPV carriers have an increased risk of malignancies other than breast and tubal/ovarian cancer at an early age.

Methods: Prospectively collected data from female BRCA1/2 GPV 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 female BRCA1/2 GPV carriers.

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BRCA1/2种系致病变异女性携带者除乳腺癌和卵巢癌外的恶性肿瘤的发生

先前的研究表明，女性BRCA1/2 GPV携带者患乳腺癌和卵巢癌以外的其他恶性肿瘤的风险增加，但风险估计差异很大。本研究的目的是调查女性BRCA1/2 GPV携带者在早期患乳腺癌和输卵管/卵巢癌以外的恶性肿瘤的风险是否增加。方法：前瞻性地收集我院基于数据/生物库的女性BRCA1/2 GPV携带者的数据，并与PALGA荷兰病理学数据库相关联。在荷兰，按年龄和日历时间分层，将60岁前发生的恶性肿瘤发病率与粗发病率/ 100,000人年进行比较。标准化发生率（SIRs）以95%置信区间（95% ci）计算。结果：在1347名女性中，在37,068人/年的60岁以下患者中检测出82种除乳腺癌和输卵管/卵巢癌以外的恶性肿瘤。一般癌症（SIR:2.25, 95%CI:1.78-2.80, p < 0.001）、头颈癌（SIR:3.17, 95%CI:1.03-7.39, p < 0.05）、胃肠道癌（SIR:1.96, 95%CI:1.14-3.13, p < 0.05）和女性生殖器癌（SIR:2.48, 95%CI:1.61-3.65, p < 0.001）的风险增加。结论：如果在包括偏倚作用和既往癌症治疗的更大规模的前瞻性研究中得到证实，认识到头颈部、胃肠道和女性生殖器癌可能增加的风险，可以用来为女性BRCA1/2 GPV携带者定制临床指南。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cancers Medicine-Oncology

CiteScore

8.00

自引率

9.60%

发文量

5371

审稿时长

18.07 days

期刊介绍： Cancers (ISSN 2072-6694) is an international, peer-reviewed open access journal on oncology. It publishes reviews, regular research papers and short communications. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced.