Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers
Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers
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DOI：
10.1200/jco.20.5.1260
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发表时间：
2002-03-01
影响因子：
45.3
通讯作者：
Offit, K
中科院分区：
文献类型：
--
作者：
Scheuer, L;Kauff, N;Offit, K
目的：前瞻性地确定遗传咨询和检测对具有乳腺癌和卵巢癌遗传风险的人群的风险降低策略和癌症发病率的影响。患者和方法：从 1995 年 5 月 1 日到 2000 年 10 月 31 日，在一个综合癌症中心鉴定了 251 名具有 BRCA 突变的个体。在遗传咨询的背景下，提供了有关筛查和预防性手术的统一建议。通过标准化问卷、图表审查以及与主治医师的联系，对患者进行平均 24.8 个月（范围为 1.6 至 66.0 个月）的随访。 结果：遗传咨询和检测后，通过体检和影像学研究进行癌症监测的频率有所增加。收到基因检测结果后，发现了 21 例乳腺癌、卵巢癌、原发性腹膜癌或输卵管癌。在测试后选择降低风险的乳房切除术的 29 人中，有两人被发现患有隐匿性导管内乳腺癌。在 90 名接受降低风险的输卵管卵巢切除术的患者中，发现 1 名早期卵巢肿瘤和 1 名早期输卵管肿瘤。基于放射线或肿瘤标志物的筛查发现了六种乳腺癌，其中五种为 0/I 期，一种为早期原发性腹膜癌，三种为 I 期或 II 期卵巢癌。在放射照相筛查间隔期间通过体检发现了另外六种乳腺癌；这 6 种肿瘤中有 4 种为 I 期。基因检测后未检测到 III 期或 IV 期恶性肿瘤。结论：这项研究提供了前瞻性证据，表明遗传咨询和检测增强了监测并导致降低风险的手术，从而导致 BRCA1 和 BRCA2 突变患者诊断为早期肿瘤。 (C) 2002 年，美国临床肿瘤学会。
Purpose : To prospectively determine the impact of genetic counseling and testing on risk-reduction strategies and cancer incidence in a cohort of individuals at hereditary risk for breast and ovarian cancer.Patients and Methods: Two hundred fifty-one individuals with BRCA mutations were identified at a single comprehensive cancer center from May 1, 1995, through October 31, 2000. Uniform recommendations regarding screening and preventive surgery were provided in the context of genetic counseling. Patients were followed for a mean of 24.8 months (range, 1.6 to 66.0 months) using standardised questionnaires, chart reviews, and contact with primary physicians.Results: Frequency of cancer surveillance by physical examinations and imaging studies increased after genetic counseling and testing. Twenty-one breast, ovarian, primary peritoneal, or fallopian tube cancers were detected after receipt of genetic test results. Among 29 individuals choosing risk-reducing mastectomy after testing, two were found to have occult intraductal breast cancers. Among 90 individuals who underwent risk-reducing salpingo-oophorectomy, one early-stage ovarian neoplasm and one early-stage fallopion tube neoplasm were found. Radiographic or tumor marker-based screening detected six breast cancers, five of which were stage 0/I, one early-stage primary peritoneal cancer, and three stage I or II ovarian cancers. Six additional breast cancers were detected by physical examination between radiographic screening intervals; four of these six tumors were stage I. No stage III or stage IV malignancies were detected after genetic testing.Conclusion: This study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCA2 mutations. (C) 2002 by American Society of Clinical Oncology.