Gaffney D K, Brohet R M, Lewis C M, Holden J A, Buys S S, Neuhausen S L, Steele L, Avizonis V, Stewart J R, Cannon-Albright L A
Department of Radiation Oncology, University of Utah, Salt Lake City 84132, USA.
Radiother Oncol. 1998 May;47(2):129-36. doi: 10.1016/s0167-8140(98)00023-1.
The purpose of this study is to evaluate overall survival in BRCA1 or BRCA2 breast cancer patients, describe presenting stage, review histologic findings and evaluate response to radiotherapy.
A retrospective study was performed evaluating breast cancer patients with known mutations of BRCA1 or BRCA2. Patients from 12 different pedigrees were cross-referenced with the Utah Cancer Registry (UCR), histologic findings were verified and radiotherapy records were reviewed for acute response to treatment. Actuarial survival calculations were performed and patients were matched for age, date of diagnosis and tumor size.
Thirty breast cancer patients with BRCA1 mutations were found to have 34 breast cancers (four had bilateral metachronous lesions) and 20 breast cancer patients with BRCA2 mutations were found to have 22 breast cancers (two had bilateral metachronous disease). The median age at diagnosis was 49 years (range 21-77 years) and 42 years (range 23-83 years), respectively, for BRCA1 and BRCA2 patients. Unusual histologic types of breast cancers were represented with 7% (4/56) medullary and 5% (3/56) lobular carcinomas. Complete staging was possible for 63% (35/56) of cancers. Stages I, II, III and IV represented 26, 63, 6 and 6% of cancers, respectively. The most severe radiation reaction was moist desquamation which was self-limiting and developed in 29% (6/21) of irradiated patients. The mean follow-up was 9.8 and 7.5 years for BRCA1 and BRCA2 cancers, respectively. Kaplan-Meier survival analysis demonstrated 5-year survival values of 75% for BRCA1 patients, 73% for BRCA2 patients, 70% for matched controls and 69% for UCR controls. No statistically significant differences were evident between the groups at 5 or 10 years.
Despite their younger age at presentation, breast cancer patients harboring BRCAI or BRCA2 mutations present at a similar stage, display a normal acute reaction to radiotherapy and have a similar prognosis when compared with sporadic breast cancer patients.
本研究旨在评估携带BRCA1或BRCA2基因的乳腺癌患者的总生存率，描述其初诊分期，回顾组织学检查结果，并评估放疗反应。
开展一项回顾性研究，评估已知携带BRCA1或BRCA2基因突变的乳腺癌患者。将来自12个不同家系的患者与犹他州癌症登记处（UCR）进行交叉比对，核实组织学检查结果，并查阅放疗记录以评估治疗的急性反应。进行精算生存计算，并根据年龄、诊断日期和肿瘤大小对患者进行匹配。
发现30例携带BRCA1基因突变的乳腺癌患者患有34处乳腺癌（4例为双侧异时性病变），20例携带BRCA2基因突变的乳腺癌患者患有22处乳腺癌（2例为双侧异时性病变）。BRCA1和BRCA2患者的诊断中位年龄分别为49岁（范围21 - 77岁）和42岁（范围23 - 83岁）。不常见的乳腺癌组织学类型包括7%（4/56）的髓样癌和5%（3/56）的小叶癌。63%（35/56）的癌症能够进行完整分期。I期、II期、III期和IV期癌症分别占26%、63%、6%和6%。最严重的放疗反应是湿性脱屑，具有自限性，在29%（6/21）的放疗患者中出现。BRCA1和BRCA2癌症患者的平均随访时间分别为9.8年和7.5年。Kaplan-Meier生存分析显示，BRCA1患者的5年生存率为75%，BRCA2患者为73%，匹配对照组为70%，UCR对照组为69%。在5年或10年时，各组之间无明显统计学差异。
尽管携带BRCA1或BRCA2基因突变的乳腺癌患者初诊时年龄较轻，但与散发性乳腺癌患者相比，其初诊分期相似，对放疗的急性反应正常，预后也相似。
