从瘤学家到外科医生 - - 对于外科医生来说,结肠直肠转移中的遗传学
Marília Polo Mingueti E Silva1,2,3, Jorge Sabbaga1,2,3, Henry Luiz Najman1
1D'Or Institute for Research and Education - São Paulo (SP), Brazil.
概括
结肠直肠癌 (CRC) 的危险因素包括环境和遗传因素. 了解零星,遗传和家族性CRC,包括林奇综合征和多重症,有助于诊断和治疗.
科学领域:
- 在瘤学瘤学.
- 胃肠病学 胃肠病学
- 遗传学 是一个遗传学.
背景情况:
- 结肠直肠癌 (CRC) 给健康带来了重大挑战,巴西的发病率很高.
- 癌症风险因素被广泛分为环境和遗传,影响疾病呈现为零星,遗传或家族性.
- 零星性CRC,50岁以上常见,没有家族病史,与饮食和环境有关,占~70%的病例.
研究的目的:
- 审查结直肠癌 (CRC) 的病因因素.
- 区分散发性,遗传性和家族性形式的CRC.
- 突出聚和遗传综合征在CRC发展和管理中的作用.
主要方法:
- 对结直肠癌风险因素和分类的文献综述.
- 分析病因路径,包括环境,遗传和遗传倾向.
- 检查与CRC相关的特定遗传综合征,如林奇综合征和各种多重症状况.
主要成果:
- 由环境和饮食因素驱动的零星CRC构成了大多数病例 (~70%).
- 遗传因素占CRC的不到10%,通常表现为结肠.
- 确定的遗传性疾病包括林奇综合征 (HNPCC),家族腺瘤多重症 (FAP),MUTYH相关多重症 (MAP) 和hamartomatous多重症综合征.
结论:
- 有效的CRC管理需要了解其多样化的起源,从生活方式到遗传倾向.
- 像林奇综合征和多重症这样的遗传综合征显著增加了癌症的风险.
- 针对性疗法和生物标志物分析的进展对于治疗转移性CRC至关重要.
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