Family communication of genetic test results among women with inherited breast cancer genes
Family communication of genetic test results among women with inherited breast cancer genes
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DOI：
10.1002/jgc4.1356
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发表时间：
2020-11-10
影响因子：
1.9
通讯作者：
Pal, Tuya
中科院分区：
文献类型：
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作者：
Cragun, Deborah;Weidner, Anne;Pal, Tuya
遗传性乳腺癌的识别可以指导护理。这些好处可以通过与有风险的家庭成员交流基因检测结果和随后的家庭检测（FT）来放大。对BRCA 1/2、PALB 2、CHEK 2和/或ATM中致病性/可能致病性（P/LP）变异的女性进行了有关遗传检测结果和FT的家庭沟通（FC）的调查。基因之间进行了比较。235名携带P/LP变异的参与者（186名BRCA 1/2，28名PALB 2，15名CHEK 2和6名ATM）的中位年龄为54岁，大多数是非西班牙裔白人（89%），既往诊断为乳腺癌（61%）。当控制其他变量时，与PALB 2（p = 0.040）和ATM/CHEK 2（p = 0.032）相比，年轻参与者（p= 0.0001）、FC自我效能高的参与者（p = 0.019）和BRCA 1/2中P/LP变异的参与者的FC更高。女性亲属和近亲中FC和FT的发生率也较高。总体而言，94%的参与者会发现一个或多个资源对FC有帮助，70%的参与者在告诉家人他们的基因检测结果时使用FC资源。最常用的三种资源包括：（a）家庭分享信（38%）;（B）印刷材料（30%）;（c）网上信息（23%）。在与遗传咨询师（GC）交谈的86%的人中，93%的人获得了至少一种FC资源，GC提供给参与者的三种最常见的资源与参与者认为有用的资源和使用的资源重叠。我们的研究结果表明，在BRCA 1/2以外的基因中具有P/LP变异的女性中，FC和FT率较低，其原因应在未来的研究中进行评估。随着更多的数据来完善癌症风险和管理在这些其他遗传性乳腺癌基因中产生，需要改善FC和FT的策略来扩大基因检测的益处。
Identification of inherited breast cancer may guide care. These benefits can be amplified through communication of genetic test results with at-risk family members and subsequent family testing (FT). Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about family communication (FC) of genetic test results and FT. Comparisons were made across genes. The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and most were non-Hispanic whites (89%) with a prior breast cancer diagnosis (61%). When controlling for other variables, FC was higher among younger participants (p.0001), those with high FC self-efficacy (p=.019), and those with P/LP variants in BRCA1/2 compared to PALB2 (p =.040) and ATM/CHEK2 (p =.032). Higher rates of FC and FT were also observed among female relatives and relatives of closer kinship. Overall 94% of participants would find one or more resources helpful with FC and 70% reported using FC resources when telling family members about their genetic test result. The three most commonly used resources included the following: (a) a family sharing letter (38%); (b) printed materials (30%); and (c) web-based information (23%). Among the 86% who spoke with a genetic counselor (GC), 93% were given at least one FC resource and the three most common resources GCs provided to participants overlapped with the resources participants would find helpful and those that were used. Our results suggest lower FC and FT rates among women with P/LP variants in genes other than BRCA1/2, the reasons for which should be evaluated in future studies. As more data to refine cancer risks and management are generated across these other inherited breast cancer genes, strategies to improve FC and FT are needed to amplify the benefits of genetic testing.