Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

IF 9.9 1区 医学 Q1 ONCOLOGY JNCI Journal of the National Cancer Institute Pub Date : 2024-11-25 DOI:10.1093/jnci/djae306
Shuai Li, Laura Madanat-Harjuoja, Goska Leslie, Daniel R Barnes, Manjeet K Bolla, Joe Dennis, Michael T Parsons, Paraskevi Apostolou, Norbert Arnold, Kristin Bosse, Antonis C Antoniou On Behalf Of Embrace Collaborators, Jackie Cook, Christoph Engel, D Gareth Evans, Florentia Fostira, Megan N Frone, Andrea Gehrig, Mark H Greene, Karl Hackmann, Eric Hahnen, Nadia Harbeck, Jan Hauke, Julia Hentschel, Judit Horvath, Louise Izatt, Marion Kiechle, Irene Konstantopoulou, Fiona Lalloo, Joanne Ngeow Yuen Yie, Dieter Niederacher, Julia Ritter, Marta Santamariña, Rita K Schmutzler, Claire Searle, Christian Sutter, Marc Tischkowitz, Vishakha Tripathi, Ana Vega, Hannah Wallaschek, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H F Weber, Drakoulis Yannoukakos, Emily Zhao, Douglas F Easton, Antonis C Antoniou, Georgia Chenevix-Trench, Timothy R Rebbeck, Lisa R Diller
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Abstract

Background: Whether carriers of BRCA1 or BRCA2 (BRCA1/2) pathogenic variants (PVs) have increased risks of childhood, adolescent, and young adult (CAYA) cancers is controversial. We aimed to evaluate this risk and to inform clinical care of young BRCA1/2 PV carriers and genetic testing for CAYA cancer patients.

Methods: Using data from 47,117 individuals from 3,086 BRCA1/2 families, we conducted pedigree analysis to estimate relative risks (RRs) for cancers diagnosed before age 30.

Results: Our data included 274 cancers diagnosed before age 30: 139 breast cancers, 10 ovarian cancers, and 125 non-breast non-ovarian cancers. Associations for breast cancer in young adulthood (20-29 years) were found with RRs of 11.4 (95% CI: 5.5, 23.7) and 5.2 (95% CI: 1.6, 17.7) for BRCA1 and BRCA2 PV carriers, respectively. No association was found for any other investigated CAYA cancer, nor for all non-breast non-ovarian cancers combined: the RRs were 0.4 (95% CI: 0.1, 1.4) and 1.4 (95% CI: 0.7, 3.0) in BRCA1 or BRCA2 PV carriers, respectively.

Conclusion: We found no evidence that BRCA1/2 PV carriers have an increased CAYA cancer risk aside from breast cancer in women in their 20's. Our results, along with a critical evaluation of previous germline sequencing studies, suggest that the childhood and adolescent cancer risk conferred by BRCA1/2 PV would be low (ie, RR < 2) if it existed. Our findings do not support PV testing for offspring of BRCA1/2 PV carriers at ages <18 years, nor for conducting BRCA1/2 PV testing for childhood and adolescent cancer patients.

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BRCA1 或 BRCA2 致病变异携带者的童年、青少年和青年期患癌风险。
背景:BRCA1或BRCA2(BRCA1/2)致病变体(PVs)携带者罹患儿童、青少年和青年(CAYA)癌症的风险是否会增加尚存争议。我们的目的是评估这一风险,并为年轻的 BRCA1/2 PV 携带者的临床治疗和 CAYA 癌症患者的基因检测提供依据:利用来自 3,086 个 BRCA1/2 家族的 47,117 人的数据,我们进行了血统分析,以估算 30 岁前诊断出的癌症的相对风险系数(RRs):我们的数据包括 274 例 30 岁前诊断的癌症:139 例乳腺癌、10 例卵巢癌和 125 例非乳腺癌非卵巢癌。研究发现,BRCA1 和 BRCA2 PV 携带者在青年期(20-29 岁)患乳腺癌的相关性分别为 11.4(95% CI:5.5, 23.7)和 5.2(95% CI:1.6, 17.7)。其他已调查的 CAYA 癌和所有非乳腺癌、非卵巢癌均未发现相关性:BRCA1 或 BRCA2 PV 携带者的 RR 分别为 0.4(95% CI:0.1,1.4)和 1.4(95% CI:0.7,3.0):我们没有发现证据表明 BRCA1/2 PV 携带者会增加 20 多岁女性患乳腺癌以外的 CAYA 癌症风险。我们的研究结果以及对以往种系测序研究的严格评估表明,BRCA1/2 PV 带来的儿童和青少年癌症风险很低(即 RR
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来源期刊
CiteScore
17.00
自引率
2.90%
发文量
203
审稿时长
4-8 weeks
期刊介绍: The Journal of the National Cancer Institute is a reputable publication that undergoes a peer-review process. It is available in both print (ISSN: 0027-8874) and online (ISSN: 1460-2105) formats, with 12 issues released annually. The journal's primary aim is to disseminate innovative and important discoveries in the field of cancer research, with specific emphasis on clinical, epidemiologic, behavioral, and health outcomes studies. Authors are encouraged to submit reviews, minireviews, and commentaries. The journal ensures that submitted manuscripts undergo a rigorous and expedited review to publish scientifically and medically significant findings in a timely manner.
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