Department of Radiation Oncology, Institut Curie, 26 Rue d'Ulm, 75248, Paris Cedex 05, France.
Breast Cancer Res Treat. 2010 Feb;120(1):119-26. doi: 10.1007/s10549-009-0685-6. Epub 2009 Dec 24.
As tumours in BRCA1/2 mutation carriers might be more sensitive to radiation, we investigated after long-term follow-up whether mutation status influenced the rate of ipsilateral and contralateral breast cancers after breast-conserving treatment (BCT). BRCA1 and BRCA2 genes were screened for germline mutations in 131 patients with a family history of breast and/or ovarian cancer who had undergone BCT and radiotherapy. Patients were matched to 261 controls with sporadic breast cancer according to age at diagnosis and year of treatment. Controls were followed up for at least as long as the interval between diagnosis and genetic screening in familial cases. Rates of ipsilateral and contralateral cancer between groups were compared by the log-rank test. The BRCA1/2 mutations occurred in 20.6% of tested patients. Tumours in mutation carriers were more likely to be grade III (P < 10(-4)) and oestrogen receptor negative (P = 0.005) than in non-carriers and controls. Overall median follow-up was 161 months. There was no significant difference in ipsilateral tumours between mutation carriers, non-carriers and controls (P = 0.13). On multivariate analysis, age was the most significant predictor for ipsilateral recurrence (P < 10(-3)). The rate of contralateral cancer was significantly higher in familial cases: 40.7% (mutation carriers), 20% (non-carriers), and 11% (controls) (P < 10(-4)). After 13.4 years of follow-up, the rate of ipsilateral tumours was no higher in mutation carriers than in non-carriers or controls. As tumours in BRCA1/2 mutation carriers might be more sensitive to radiation, BCT is a possible treatment option.
由于 BRCA1/2 突变携带者的肿瘤可能对辐射更敏感，我们在长期随访后研究了突变状态是否会影响保乳治疗（BCT）后同侧和对侧乳腺癌的发生率。对 131 例有家族性乳腺癌和/或卵巢癌病史并接受 BCT 和放疗的患者进行了 BRCA1 和 BRCA2 基因的种系突变筛查。根据诊断时的年龄和治疗年份，将患者与 261 例散发性乳腺癌对照匹配。对照者的随访时间至少与家族病例的诊断和基因筛查间隔时间一样长。通过对数秩检验比较组间同侧和对侧癌症的发生率。测试患者中有 20.6%发生 BRCA1/2 突变。与非携带者和对照组相比，突变携带者的肿瘤更有可能为 III 级（P < 10(-4))和雌激素受体阴性（P = 0.005)。总体中位随访时间为 161 个月。突变携带者、非携带者和对照组之间同侧肿瘤无显著差异（P = 0.13)。多变量分析显示，年龄是同侧复发的最显著预测因素（P < 10(-3))。家族病例的对侧癌症发生率显著更高：40.7%（突变携带者）、20%（非携带者）和 11%（对照组）（P < 10(-4))。随访 13.4 年后，突变携带者的同侧肿瘤发生率并不高于非携带者或对照组。由于 BRCA1/2 突变携带者的肿瘤可能对辐射更敏感，BCT 可能是一种治疗选择。
