Maine Medical Center Research Institute, Scarborough, ME, USA.
Fam Cancer. 2009;8(4):277-87. doi: 10.1007/s10689-009-9242-z. Epub 2009 Apr 4.
The context is that there are limited data regarding the management of women at risk for hereditary breast and ovarian cancer (HBOC) after genetic counseling in the community setting. The objective of the study is to examine the cancer screening and prevention behaviors among women with diverse risk factors for HBOC, counseled through a non-academic genetic counseling service. This study was designed as a retrospective telephone survey. A community/private-hospital based cancer genetic counseling service was setting. The patients studied were women, at least 21 years of age, who had undergone cancer genetic counseling with: (1) a >or=10% predicted likelihood of carrying a BRCA1/2 mutation; (2) a documented BRCA1/2 mutation. A 121-item telephone survey was intervened. Main outcome measures are (1) reason for referral, (2) genetic testing/results, and (3) screening and prevention behaviors. Sixty-nine women participated (31% response rate). Forty-nine (71%) respondents had a history of breast cancer. Forty-three women (62%) reported undergoing BRCA1/2 testing, of these, seven (16%) had a deleterious mutation; 32 (74%) received negative results and four (9%) had "inconclusive" findings. Among the seven with documented mutations; five had a personal history of breast cancer; none had a history of ovarian cancer; all had undergone bilateral salpingo-oophorectomy (BSO), while five (71%) had undergone bilateral mastectomy. Among those 62 respondents without a documented mutation, pretest likelihood of a BRCA1/2 mutation (based on established models) was as follows: 10-29% likelihood in 38 (61%); 30-59% likelihood in 16 (26%); and >or=60% likelihood in eight (13%). Of these, 16 (26%) had undergone bilateral mastectomy for treatment and/or risk-reduction while 20 (32%) had undergone BSO for risk-reduction or for "other reasons". Almost all who had not undergone bilateral mastectomy were presenting for regular mammograms; fewer were undergoing regular breast MRI imaging. For those who had not undergone risk-reducing BSO; few were having CA-125 levels or transvaginal ultrasounds. Among those studied, the majority underwent genetic testing. A significant percentage elected to undergo risk-reducing mastectomy and BSO. Although prophylactic surgical decisions appeared to be largely influenced by BRCA mutation status, a number of women in the lower risk categories had undergone these procedures.
在社区环境下，接受遗传咨询的遗传性乳腺癌和卵巢癌（HBOC）高危女性的管理数据有限。本研究的目的是检查通过非学术遗传咨询服务咨询的具有不同 HBOC 风险因素的女性的癌症筛查和预防行为。本研究设计为回顾性电话调查。以社区/私立医院为基础的癌症遗传咨询服务为研究地点。研究对象为年龄至少 21 岁的女性，她们曾接受过以下癌症遗传咨询：（1）携带 BRCA1/2 突变的预测可能性> 10%；（2）有记录的 BRCA1/2 突变。进行了 121 项电话调查。主要观察指标为（1）转诊原因，（2）基因检测/结果，以及（3）筛查和预防行为。69 名妇女参加（31%的应答率）。49 名（71%）受访者有乳腺癌病史。43 名妇女（62%）报告接受了 BRCA1/2 检测，其中 7 名（16%）有有害突变；32 名（74%）结果为阴性，4 名（9%）结果为“不确定”。在有记录的突变的 7 名女性中；5 人有乳腺癌病史；无卵巢癌病史；均行双侧输卵管卵巢切除术（BSO），而 5 名（71%）行双侧乳房切除术。在 62 名没有记录突变的受访者中，BRCA1/2 突变的术前可能性（基于既定模型）如下：38 名（61%）的可能性为 10-29%；16 名（26%）的可能性为 30-59%；8 名（13%）的可能性为> 60%。其中，16 名（26%）因治疗和/或降低风险而行双侧乳房切除术，20 名（32%）因降低风险或“其他原因”而行 BSO。几乎所有未行双侧乳房切除术的人都接受了常规乳房 X 线摄影检查；较少的人接受了常规乳房 MRI 成像。对于那些未行预防性 BSO 的人，很少有人进行 CA-125 水平或经阴道超声检查。在研究中，大多数人接受了基因检测。相当一部分人选择接受降低风险的乳房切除术和 BSO。尽管预防性手术决定似乎主要受 BRCA 突变状态的影响，但许多低风险类别的女性也接受了这些手术。
