Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer
Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer
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DOI：
10.1200/jco.2008.16.6231
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发表时间：
2008-09-10
影响因子：
45.3
通讯作者：
Arun, Banu K.
中科院分区：
文献类型：
--
作者：
Atchley, Deann P.;Albarracin, Constance T.;Arun, Banu K.
BRCA1和BRCA2基因突变会增加患乳腺癌的风险。我们确定有BRCA突变和没有BRCA突变的患者的肿瘤病理特征和临床特征是否不同。患者和方法对1997 - 2006年间接受BRCA基因检测的491例乳腺癌患者的病理特征和临床特征进行了分析。对医疗记录进行回顾性审查，以确定临床特征，包括种族、年龄和诊断时的临床阶段、胎次年龄、足月妊娠次数、口服避孕药和激素替代疗法的使用以及BRCA突变状态。回顾肿瘤病理以确定组织学类型、肿瘤分级、雌激素受体、孕激素受体和HER-2/neu状态。结果491例确诊乳腺癌患者中，391例BRCA阴性，86例BRCA阳性。三阴性乳腺癌（即雌激素受体阴性、孕激素受体阴性、HER-2/neu状态阴性）在brca1阳性患者中占57.1%，在brca2阳性患者中占23.3%，在brca阴性患者中占13.8%。BRCA1突变携带者的核级肿瘤发生率高于其他两组（P < 0.001）。在三阴性癌症患者中，BRCA2突变携带者比BRCA1突变携带者和非携带者在诊断时年龄更大（P < 0.01）。结论BRCA1突变相关肿瘤可分为三阴性组和非三阴性组。未来的研究应寻求确定BRCA1突变和三阴性乳腺癌患者是否比具有相似肿瘤病理的brca阴性患者对治疗的反应更好。
PurposeMutations in the BRCA1 and BRCA2 genes confer greater risk of developing breast cancer. We determined whether tumor pathologic features and clinical features differ in patients with and without BRCA mutations.Patients and MethodsTumor pathologic features and clinical characteristics were examined in 491 women with breast cancer who underwent genetic testing for BRCA mutations between 1997 and 2006. A retrospective review of medical records was conducted to determine clinical characteristics including ethnicity, age and clinical stage at diagnosis, age at parity, number of full-term pregnancies, use of oral contraceptives and hormone replacement therapy, and BRCA mutation status. Tumor pathology was reviewed to determine histologic type, tumor grade, and estrogen receptor, progesterone receptor, and HER-2/neu status.ResultsOf the 491 patients with identified breast cancers, 391 patients were BRCA negative, and 86 patients were BRCA positive. Triple-negative breast cancer (ie, those with negative estrogen receptor, progesterone receptor, and HER-2/neu status) was diagnosed in 57.1% of the BRCA1-positive patients, 23.3% of the BRCA2-positive patients, and 13.8% of the BRCA-negative patients. BRCA1 mutation carriers had higher nuclear grade tumors than the other two groups (P < .001). Of the triple-negative cancer patients, BRCA2 mutation carriers were older when diagnosed than BRCA1 mutation carriers and noncarriers (P < .01).ConclusionThese results suggest that tumors associated with BRCA1 mutations may be divided into two distinct groups, triple-negative and non-triple-negative groups. Future studies should seek to determine whether patients with BRCA1 mutations and triple-negative breast cancer respond to treatment better than BRCA-negative patients with similar tumor pathology.