Abstract：
Germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes confer elevated risks of breast, ovarian, and other cancers. Lynch syndrome (LS) is associated with increased risks of multiple cancer types including colorectal and uterine cancers. Current cancer risk mitigation strategies have focused on pharmacologic risk reduction, enhanced surveillance, and preventive surgeries. While these approaches can be effective, they stand to be improved on because of either limited efficacy or undesirable impact on quality of life. The current review summarizes ongoing investigational efforts in cancer risk prevention strategies for patients with germline PVs in BRCA1, BRCA2, or LS-associated genes. These efforts span radiation, surgery, and pharmacology including vaccine strategies. Understanding the molecular events involved in the premalignant to malignant transformation in high-risk individuals may ultimately contribute significantly to novel prevention strategies.
摘要：
BRCA1和BRCA2基因中的种系致病变异（PVs）赋予乳腺风险升高，卵巢,和其他癌症。Lynch综合征（LS）与多种癌症类型（包括结直肠癌和子宫癌）的风险增加有关。当前的癌症风险缓解策略集中在降低药物风险上。加强监视,和预防性手术。虽然这些方法可能是有效的，由于疗效有限或对生活质量的不良影响，它们有待改善。本综述总结了针对BRCA1，BRCA2或LS相关基因中具有种系PV的患者的癌症风险预防策略的正在进行的研究工作。这些努力跨越了辐射，手术,和药理学，包括疫苗策略。了解高风险个体癌前向恶性转化的分子事件可能最终对新的预防策略做出重大贡献。
