Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting
Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting
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DOI：
10.1007/s10689-009-9242-z
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发表时间：
2009-12-01
期刊：
影响因子：
2.2
通讯作者：
Miesfeldt, Susan
中科院分区：
文献类型：
--
作者：
Morgan, Debra;Sylvester, Heather;Miesfeldt, Susan
背景是，关于在社区环境中进行遗传咨询后对有遗传性乳腺癌和卵巢癌 (HBOC) 风险的女性进行管理的数据有限。该研究的目的是检查具有多种 HBOC 危险因素的女性的癌症筛查和预防行为，并通过非学术遗传咨询服务提供咨询。这项研究是一项回顾性电话调查。正在建立基于社区/私立医院的癌症遗传咨询服务。研究的患者是至少 21 岁的女性，她们接受过癌症遗传咨询：(1) 千分之一日元 10% 预测携带 BRCA1/2 突变的可能性； (2) 已记录的 BRCA1/2 突变。进行了 121 项电话调查。主要结果指标包括 (1) 转诊原因，(2) 基因检测/结果，以及 (3) 筛查和预防行为。 69 名女性参与（回应率为 31%）。四十九 (71%) 受访者有乳腺癌病史。 43 名女性 (62%) 报告接受了 BRCA1/2 检测，其中 7 名 (16%) 存在有害突变； 32 人 (74%) 收到阴性结果，四人 (9%) 得到“不确定”的结果。在七个有记录的突变中；五人有乳腺癌个人史；没有人有卵巢癌病史；所有人均接受了双侧输卵管卵巢切除术 (BSO)，其中 5 人 (71%) 接受了双侧乳房切除术。在这 62 名没有突变记录的受访者中，BRCA1/2 突变的预测试可能性（基于已建立的模型）如下： 38 人（61%）的可能性为 10-29%； 16 中的可能性为 30-59% (26%)；千分之一日元的可能性为 8 (13%)。其中，16 人（26%）为了治疗和/或降低风险而接受了双侧乳房切除术，而 20 人（32%）为了降低风险或“其他原因”而接受了 BSO。几乎所有未接受双侧乳房切除术的患者都定期接受乳房 X 光检查；很少有人定期接受乳腺核磁共振成像。对于那些没有接受过降低风险的 BSO 的人；很少有人有 CA-125 水平或经阴道超声检查。在这些研究对象中，大多数人都接受了基因检测。很大一部分人选择接受降低风险的乳房切除术和 BSO。尽管预防性手术决策似乎在很大程度上受到 BRCA 突变状态的影响，但许多低风险类别的女性已经接受了这些手术。
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 a parts per thousand yen10% 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 a parts per thousand yen60% 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.