Department of Radiation Oncology, University of Michigan, Ann Arbor, MI, USA.
Semin Radiat Oncol. 2011 Jan;21(1):43-50. doi: 10.1016/j.semradonc.2010.08.008.
Hereditary breast cancer represents approximately 5% to 10% of breast cancers and a larger portion of patients with early-onset disease. Given the relatively recent identification of the BRCA1 and BRCA2 genes, the available literature with respect to outcomes related to radiation therapy has inherent limitations with relatively small patient numbers and a lack of prospective randomized trials. There is, however, a growing body of literature describing treatment and toxicity outcomes in patients undergoing radiation therapy after breast-conserving surgery and after mastectomy for breast cancer patients who have BRCA1 and BRCA2 mutations. Acknowledging the limitations in the available data, there does not appear to be any evidence of more severe normal tissue reactions or compromised long-term survival rates in women electing breast-conserving surgery and radiation. These studies are reviewed in this article. Outcomes related to radiation therapy in patients with variants in other breast cancer-related genes, such as p53, ATM, CHEK2, PALB2, and PTEN, are even less well documented because of the paucity of data. Available reports on radiation-related outcomes in these and single nucleotide polymorphisms in radiation repair and response genes are discussed.
遗传性乳腺癌约占乳腺癌的 5%至 10%,并且在发病较早的患者中占更大比例。鉴于 BRCA1 和 BRCA2 基因的相对近期发现,与放射治疗相关的现有文献具有内在局限性,患者数量相对较少,缺乏前瞻性随机试验。然而,越来越多的文献描述了接受保乳手术后和因 BRCA1 和 BRCA2 突变而行乳房切除术的乳腺癌患者接受放射治疗的治疗和毒性结果。鉴于现有数据的局限性,选择保乳手术和放射治疗的女性似乎没有任何证据表明正常组织反应更严重或长期生存率降低。本文综述了这些研究。由于数据匮乏,其他与乳腺癌相关基因(如 p53、ATM、CHEK2、PALB2 和 PTEN)变异患者的放射治疗相关结局的相关信息记录得更少。讨论了这些基因和放射修复和反应基因中单核苷酸多态性的放射相关结局的现有报告。