遗传性癌症综合征患者的新型癌症预防策略:聚焦 BRCA1、BRCA2 和林奇综合征。

Charles M Bowen, Kaitlin Demarest, Eduardo Vilar, Payal D Shah
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引用次数: 0

摘要

BRCA1 和 BRCA2 基因中的种系致病变体 (PV) 会增加罹患乳腺癌、卵巢癌和其他癌症的风险。林奇综合征(LS)与包括结肠直肠癌和子宫癌在内的多种癌症风险增加有关。目前的癌症风险缓解策略主要集中在药物降低风险、加强监测和预防性手术上。这些方法虽然有效,但由于疗效有限或对生活质量造成不良影响,因此仍有待改进。本综述总结了目前针对 BRCA1、BRCA2 或 LS 相关基因种系 PV 患者的癌症风险预防策略研究工作。这些研究涉及辐射、手术和药理学,包括疫苗策略。了解高危人群从恶性前转变为恶性过程中所涉及的分子事件,最终可能会对新型预防策略做出重大贡献。
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Novel Cancer Prevention Strategies in Individuals With Hereditary Cancer Syndromes: Focus on BRCA1, BRCA2, and Lynch Syndrome.

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.

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期刊介绍: The Ed Book is a National Library of Medicine–indexed collection of articles written by ASCO Annual Meeting faculty and invited leaders in oncology. Ed Book was launched in 1985 to highlight standards of care and inspire future therapeutic possibilities in oncology. Published annually, each volume highlights the most compelling research and developments across the multidisciplinary fields of oncology and serves as an enduring scholarly resource for all members of the cancer care team long after the Meeting concludes. These articles address issues in the following areas, among others: Immuno-oncology, Surgical, radiation, and medical oncology, Clinical informatics and quality of care, Global health, Survivorship.
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