Estrogen receptor status in BRCA1- and BRCA2-related breast cancer:: The influence of age, grade, and histological type
Estrogen receptor status in BRCA1- and BRCA2-related breast cancer:: The influence of age, grade, and histological type
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DOI：
10.1158/1078-0432.ccr-03-1061
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发表时间：
2004-03-15
影响因子：
11.5
通讯作者：
Narod, SA
中科院分区：
文献类型：
--
作者：
Foulkes, WD;Metcalfe, K;Narod, SA
目的：与 BRCA2 相关或非遗传性乳腺癌相比，BRCA1 相关乳腺癌更常见雌激素受体 (ER) 阴性。 ER 状态与遗传性乳腺癌其他临床特征之间的关系尚未得到充分研究。实验设计：对北美 10 个中心确定的 1131 名患有浸润性乳腺癌的女性的 ER 状态、分级和组织学肿瘤类型进行了评估。有 208 名 BRCA1 突变携带者、88 名 BRCA2 携带者和 804 名没有已知突变的女性。我们根据突变状态、分级、年龄和组织学类型对患者进行分层，并计算每个层中 ER 阳性肿瘤的百分比。结果：在调整年龄、分级和组织学亚型后，BRCA1 突变携带者比其他组中的女性更有可能患 ER 阴性乳腺癌 (P < 0.001)。只有 3.9% 的 BRCA1 相关乳腺癌是绝经后女性中发生的 ER 阳性癌症。 BRCA1 携带者中 ER 状态随诊断时年龄增加而变化的方向和幅度与 BRCA2 携带者显着不同（P 截距 = 0.0002，P 斜率 = 0.04）。值得注意的是，BRCA1 携带者和非携带者的 ER 状态随诊断时年龄的变化几乎相同 (P 斜率 = 0.98)。结论：BRCA1 突变的存在与乳腺癌 ER 阴性状态之间的密切关系既不是发病年龄小也不是高级别的结果，而是 BRCA1 相关癌症的固有特性。这些癌症的 ER 阴性状态可能反映了 BRCA1 相关癌症的细胞起源。
Purpose: BRCA1-related breast cancers are more frequently estrogen receptor (ER) negative than are either BRCA2-related or nonhereditary breast cancers. The relationship between ER status and other clinical features of hereditary breast cancers has not been well studied.Experimental Design: ER status, grade, and histological tumor type were evaluated in 1131 women with invasive breast cancer, ascertained at 10 centers in North America. There were 208 BRCA1 mutation carriers, 88 BRCA2 carriers, and 804 women without a known mutation. We stratified the patients by mutation status, grade, age, and histological type and calculated the percentage of ER-positive tumors within each stratum.Results: BRCA1 mutation carriers were more likely to have ER-negative breast cancers than were women in other groups, after adjustment for age, grade, and histological subtype (P < 0.001). Only 3.9% of BRCA1-related breast cancers were ER-positive cancers occurring in women in their postmenopausal years. The direction and magnitude of the change in ER status with increasing age at diagnosis in BRCA1 carriers was significantly different from in BRCA2 carriers (P-intercept = 0.0002, P-slope = 0.04). Notably, changes in ER status with age at diagnosis for BRCA1 carriers and noncarriers were almost identical (P-slope = 0.98).Conclusions: The strong relationship between the presence of a BRCA1 mutation and the ER-negative status of the breast cancers is neither a consequence of the young age at onset nor the high grade but is an intrinsic property of BRCA1-related cancers. The ER-negative status of these cancers may reflect the cell of origin of BRCA1-related cancers.