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.

中文翻译：

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遗传性乳腺癌基因女性基因检测结果的家庭交流

遗传性乳腺癌的鉴定可以指导护理。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。在BRCA1/2、PALB2、CHEK2和/或ATM中具有致病性/可能致病性 (P/LP) 变异的女性接受了关于基因检测结果和 FT 的家庭交流 (FC) 的调查。跨基因进行比较。235名参与者P / LP变体（186 BRCA1 / 2，28 PALB2，15 CHEK2和6 ATM）具有54位年龄和最是非西班牙裔白人（89％）与现有乳腺癌诊断（61％ ）。当控制其他变量时，年轻参与者的 FC 更高（p <.0001)、具有高 FC 自我效能的那些 ( p = .019) 以及与PALB2 ( p = .040) 和ATM/CHEK2相比在BRCA1/2 中具有 P/LP 变异的那些( p=.032）。在女性亲属和近亲亲属中也观察到较高的 FC 和 FT 发生率。总体而言，94% 的参与者会发现一种或多种资源对 FC 有帮助，70% 的参与者报告说在告诉家庭成员他们的基因检测结果时使用了 FC 资源。三种最常用的资源包括： (a) 家庭分享信 (38%)；(b) 印刷材料（30%）；(c) 基于网络的信息（23%）。在与遗传顾问 (GC) 交谈的 86% 中，93% 获得了至少一种 FC 资源，并且 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已使用的资源重叠。我们的结果表明，在BRCA1/2以外的基因中具有 P/LP 变异的女性的 FC 和 FT 率较低，应在未来的研究中评估其原因。随着在这些其他遗传性乳腺癌基因中产生更多用于改进癌症风险和管理的数据，需要改善 FC 和 FT 的策略来扩大基因检测的好处。