Suttman Alexandra, Pilarski Robert, Agnese Doreen M, Senter Leigha
Division of Human Genetics, Department of Internal Medicine and James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
Division of Pediatrics, Department of Hematology, Oncology, and Bone Marrow Transplant, Children's Hospital Colorado, 13123 E. 16th Ave, B115, Aurora, CO, 80045, USA.
J Genet Couns. 2018 Aug;27(4):885-893. doi: 10.1007/s10897-018-0214-z. Epub 2018 Feb 5.
Hereditary breast and ovarian cancer syndrome (HBOC) is a cancer predisposition syndrome that affects both men and women, with more significant cancer risk elevations in women. Dissemination patterns regarding familial genetic risk information among females with HBOC are fairly well defined, but knowledge about how males share this information is limited. We interviewed 21 people primarily Ashkenazi Jewish men who were accrued via listserv email through Facing Our Risk of Cancer Empowered (FORCE). Interviews focused on family cancer history, experiences with cancer and genetic testing, motivations to pursue genetic testing and subsequently disclose genetic test results, information-sharing patterns, health care provider response, and participants' emotional support systems. The interviews were transcribed in their entirety, coded, and analyzed based on recurring themes. Eighteen transcripts were used for the analysis. Results were classified into five main themes. Participants (n = 8) were most concerned about cancer risk for their children and female family members, and most (n = 11) mentioned that HBOC provides them increased personal awareness, but has a negligible impact on their life overall (n = 9). Men (n = 11) were interested in a male-focused support group to discuss HBOC and gain knowledge and information. Participants (n = 9) took on active and open communication roles with family members and health care providers. The majority of participants (n = 14) discussed the need for knowledge and awareness among the health care community and general population regarding male HBOC risks. This study serves as a pilot study and provides important and novel insights into psychosocial impacts, communication patterns, encounters with health care professionals, and expressed needs of males with HBOC.
遗传性乳腺癌和卵巢癌综合征（HBOC）是一种癌症易感性综合征，影响男性和女性，女性患癌风险升高更为显著。关于HBOC女性患者家族遗传风险信息的传播模式已相当明确，但对于男性如何分享此类信息的了解却很有限。我们采访了21人，主要是德系犹太人男性，他们是通过“直面癌症风险赋权组织”（FORCE）的邮件列表招募而来的。访谈聚焦于家族癌症病史、癌症及基因检测经历、进行基因检测并随后披露基因检测结果的动机、信息分享模式、医疗服务提供者的反应以及参与者的情感支持系统。访谈内容全部转录、编码，并根据反复出现主题进行分析。18份访谈记录用于分析。结果分为五个主要主题。参与者（n = 8）最关心子女和女性家庭成员的癌症风险，大多数人（n = 11）提到HBOC提高了他们的个人意识，但对他们的整体生活影响可忽略不计（n = 9）。男性（n = 11）对以男性为中心的支持小组感兴趣，以便讨论HBOC并获取知识和信息。参与者（n = 9）在与家庭成员和医疗服务提供者交流时扮演积极开放的角色。大多数参与者（n = 14）讨论了医疗界和普通人群了解男性HBOC风险的必要性和意识。本研究作为一项试点研究，为HBOC男性患者的心理社会影响、交流模式、与医疗专业人员的接触以及表达的需求提供了重要且新颖的见解。
