Genetics in Colorectal Cancer

Billy Peter Manawan
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Abstract

Colorectal cancer are the third most commonly diagnosed form of cancer globally, which about 11% of all cancer diagnoses. Obesity, together with kind of sedentary lifestyle, red meat consumption, tobacco, and alcohol consumption are considered as predisposing factors of progression of CRC.  In the development of colorectal cancer, genetic factors having a role in its incidence. The hereditary type of colorectal cancer was divided into two types is polyposis and Lynch syndrome which have each and different mechanism and genetic pattern. Lynch syndrome contributes for 3–5% of CRC cases and is caused by a germline mutation in one of four genes associated with the DNA mismatch repair (MMR) system: MLH1, MSH2, MSH6, or PMS2. In polyposis, there are some types such as Familial Adenomatous Polyposis (FAP) which mostly caused by APC mutation, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. Genetic testing and better family history documentation can enable those with a hereditary predisposition for the neoplasm to take preventive measures. Some genetic testing can be used such as Microsatellite instability (MSI), immunohistochemistry (IHC), DNA sequencing and protein truncation that used for each type of hereditary colorectal cancer.
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结直肠癌的遗传学
结直肠癌是全球第三大最常诊断的癌症,约占所有癌症诊断的11%。肥胖、久坐不动的生活方式、食用红肉、吸烟和饮酒被认为是结直肠癌进展的易感因素。在结直肠癌的发展过程中,遗传因素对其发病有一定影响。结直肠癌的遗传类型分为息肉病和Lynch综合征两种类型,它们的发病机制和遗传模式各不相同。Lynch综合征占结直肠癌病例的3-5%,由与DNA错配修复(MMR)系统相关的四种基因之一的种系突变引起:MLH1、MSH2、MSH6或PMS2。在息肉病中,有一些类型,如家族性腺瘤性息肉病(FAP),主要由APC突变引起,myh相关的息肉病,以及罕见的错构瘤性息肉病综合征。基因检测和更好的家族史记录可以使那些有肿瘤遗传倾向的人采取预防措施。可使用微卫星不稳定性(MSI)、免疫组织化学(IHC)、DNA测序和蛋白质截断等基因检测,用于每种类型的遗传性结直肠癌。
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