BRCA-associated breast cancer in young women
BRCA-associated breast cancer in young women
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DOI：
10.1200/jco.1998.16.5.1642
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发表时间：
1998-05-01
影响因子：
45.3
通讯作者：
Offit, K
中科院分区：
文献类型：
--
作者：
Robson, M;Gilewski, T;Offit, K
目的：描述乳腺癌的临床特征和结果，出现在生殖系BRCA突变的设置和比较BRCA相关的乳腺癌（BABC）与那些出现在妇女没有mutations.Patients和方法：我们回顾了91德系犹太妇女的临床记录，确定在早发性乳腺癌的遗传学研究。所有女性都接受了BRCA I突变185delAG和5382insC的检测。在发现BRCA2后，还对79名妇女进行了BRCA2突变6174delT的检测，结果：在30名妇女中鉴定出突变（33%）。与无突变的女性相比，BABC不太可能出现I期疾病（27% v46%），更可能有腋窝淋巴结受累（54% v46%），更可能有广泛的腋窝受累（25% v17%）。这些差异无统计学显著性。BABC明显更可能是组织学III级（100%对59%，P = 0.04）和雌激素受体阴性（70%对34%，P = 0.04）。在整个队列中，BABC和非BRCA相关癌症之间的5年无复发生存率（65% vs 69%，P =无显著性[NS]）、5年无事件生存率（57% vs 68%，P = NS）或5年总生存率无显著差异。然而，在进入研究的2年内确诊的病例中，BRCA杂合子的无事件生存期有缩短的趋势，但无复发生存期没有缩短。生殖系BRCA突变的妇女显着更容易发展对侧乳腺癌在5年（31%对4%，P = .0007）。结论：BABC呈现不良的临床和组织病理学特征相比，与BRCA突变无关的情况下。然而，BABC的预后似乎与非相关癌症相似。有必要进一步研究偶发病例，以确定生殖系BRCA突变的独立预后意义。(C)1998年，美国临床肿瘤学会。
Purpose: To delineate the clinical characteristics and outcomes of breast cancer that arises in the setting of a germline BRCA mutation and to compare BRCA-associated breast cancers (BABC) with those that arise in women without mutations.Patients and Methods: We reviewed the clinical records of 91 Ashkenazi Jewish women ascertained during studies of the genetics of early-onset breast cancer. All women underwent testing for the BRCA I mutations 185delAG and 5382insC. After the discovery of BRCA2, 79 women were also tested for the BRCA2 mutation 6174delT,Results: Mutations were identified in 30 women (33%). BABC were less likely to present with stage I disease than cases in women without mutations (27% v 46%), more likely to have axillary nodal involvement (54% v 46%), and more likely to have extensive axillary involvement (25% v 17%). These differences were not statistically significant. BABC were significantly more likely to be histologic grade III (100% v 59%, P = .04) and to be estrogen receptor-negative (70% v 34%, P = .04). In the entire cohort, there were no significant differences between BABC and non-BRCA-associated cancers in 5-year relapse-free survival (65% v 69%, P = not significant [NS]), 5-year event-free survival (57% v 68%, P = NS), or 5-year overall survival. However, among cases diagnosed within 2 years of study entry, there was a trend toward shorter event-free survival in BRCA heterozygotes, but not relapse-free survival. Women with germline BRCA mutations were significantly more likely to develop contralateral breast cancer at 5 years (31% v 4%, P = .0007).Conclusion: BABC present with adverse clinical and histopathologic features when compared with cases not associated with BRCA mutations. However, the prognosis of BABC appears to be similar to that of nonassociated cancer. Further studies of incident cases are necessary to define the independent prognostic significance of germline BRCA mutations. (C) 1998 by American Society of Clinical Oncology.