尽管大多数患有BRCA相关乳腺癌的女性选择双侧乳房切除术,目前的指南支持将保乳治疗作为一种选择.随着基因检测适应症的扩大和靶向治疗的出现,在选择保乳的患者人群中,了解保乳治疗的结局非常重要.
为了描述接受保乳治疗的BRCA相关乳腺癌患者的临床结局,包括同侧和对侧癌症事件的风险以及双侧乳房无切除术生存率。
这项队列研究在一个单一机构的学术国家综合癌症中心进行,包括172名从前瞻性维护的数据库中确定的具有致病性BRCA1/2变异的女性,从1977年1月1日至2021年12月31日接受保乳治疗。
■比较了BRCA1和BRCA2患者的临床和病理特征,以及总体生存率的估计,双侧乳房无切除术生存率,远处无病生存,患同侧乳腺癌的风险,计算对侧癌症的风险。
■该队列包括172名女性(平均[SD]年龄,47.1[11.7]年),42(24.4%)在40岁之前接受乳腺癌诊断。与BRCA2变异携带者(80[46.5%])相比,BRCA1变异的女性(92[53.5%])在乳腺癌诊断时更年轻,并且倾向于有更晚期的肿瘤,更有可能是激素受体阴性和更高的等级。在11.8年的中位随访时间(IQR,5.7-18.2年),对10年生存率和风险的估计为:总生存率,88.5%(95%CI,83.1%-94.2%);双侧乳房无切除术生存率,70.7%(95%CI,63.3%-78.9%);患侧乳腺癌事件的风险,12.2%(95%CI,5.8%-18.2%);对侧癌症的风险,21.3%(95%CI,13.3%-28.6%)。经过10年的跟踪,风险持续增加。
■在这项队列研究中,尽管接受保乳治疗的患有乳腺癌和致病性BRCA1/2变异的女性发生同侧和对侧乳腺癌事件的风险高于平均水平,大多数患者没有发生其他癌症事件,并且保留双侧乳房切除术.这些发现可能有助于告知BRCA变异的患者选择乳房保护。
UNASSIGNED: Although most women with BRCA-associated breast cancer choose bilateral
mastectomy, current guidelines support breast-conserving therapy as an option. As the indications for genetic testing expand and targeted therapies emerge, understanding the outcomes of breast-conserving therapy in the population of patients choosing breast conservation is important.
UNASSIGNED: To describe the clinical outcomes of women with BRCA-associated breast cancer who were treated with breast-conserving therapy, including the risks of ipsilateral and contralateral cancer events and bilateral
mastectomy-free survival.
UNASSIGNED: This cohort study conducted at a single-institution academic national comprehensive cancer center included 172 women identified from a prospectively maintained database who had pathogenic BRCA1/2 variants and were treated with breast-conserving therapy from January 1, 1977, to December 31, 2021.
UNASSIGNED: Clinical and pathologic characteristics for patients with BRCA1 and BRCA2 were compared, and estimates of overall survival, bilateral
mastectomy-free survival, distant disease-free survival, risk of ipsilateral breast cancer, and risk of contralateral cancer were computed.
UNASSIGNED: The cohort included 172 women (mean [SD] age, 47.1 [11.7] years), with 42 (24.4%) receiving a diagnosis of breast cancer prior to 40 years of age. Compared with BRCA2 variant carriers (80 [46.5%]), women with BRCA1 variants (92 [53.5%]) were younger at breast cancer diagnosis and tended to have more advanced tumors, which were more likely to be hormone receptor negative and higher grade. At a median follow-up of 11.8 years (IQR, 5.7-18.2 years), estimates of 10-year survival and risk were: overall survival, 88.5% (95% CI, 83.1%-94.2%); bilateral
mastectomy-free survival, 70.7% (95% CI, 63.3%-78.9%); risk of an ipsilateral breast cancer event, 12.2% (95% CI, 5.8%-18.2%); and risk of contralateral cancer, 21.3% (95% CI, 13.3%-28.6%). Risks continued to increase after 10 years of follow-up.
UNASSIGNED: In this cohort study, although women with breast cancer and pathogenic BRCA1/2 variants treated with breast-conserving therapy had above-average risks of ipsilateral and contralateral breast cancer events, most did not have another cancer event and remained bilateral
mastectomy free. These findings may be useful for informing patients with BRCA variants choosing breast conservation.