BRCA1 和 BRCA2 基因突变携带者乳腺癌和卵巢癌预防策略的现代方法和未来展望:文献综述

Sandra Sarnacka, Jakub Kordialik, Julia Koćwin, Paula Bieganek, Bartosz Sadłowski, Stanisław Łukaszewicz, Piotr Pawłowski, Julia Rybak, Michał Tokarski, Angelika Banasiak
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摘要

BRCA1 和 BRCA2 基因突变携带者罹患乳腺癌和卵巢癌的几率大大增加。 除了一些生活方式建议(如保持体育锻炼、健康的体重指数、可能的早育和母乳喂养)外,对 BRCA1/2 基因突变携带者的管理还包括基因突变的早期检测、筛查、降低风险的手术和化学预防。目前已有各种预防策略,其目的都是监测患者并降低癌症风险。然而,即使存在指导预防工作的国家和国际指南,也没有一个理想的方案能普遍适用于所有 BRCA 基因突变的个体。本文旨在深入探讨目前可用的监测和预防策略,并探索未来早期检测和降低 BRCA 基因突变携带者风险的潜在途径。
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Modern Approaches and Future Perspectives on Breast and Ovarian Cancer Prevention Strategies in BRCA1 and BRCA2 Mutation Carriers: A Literature Overview
Individuals with BRCA1 and BRCA2 mutations face significantly heightened likelihood of developing breast and ovarian cancers.  Besides some lifestyle recommendations, like maintaining physical activity, healthy BMI, possibly early parenthood and breastfeeding, the management of BRCA1/2 mutation carriers includes gene mutation early-detection, screening, risk-reducing surgeries, and chemoprevention. Various prevention strategies exist, all aimed at monitoring patients and mitigating the cancer risks. However, even with the existence of national and international guidelines to direct prevention efforts, there is no ideal protocol that would be universally applicable for all individuals with mutated BRCA gene. This article aims to delve into the currently available surveillance and preventive strategies and explore the potential future avenues for early detection and risk reduction in BRCA mutation carriers.
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