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[遗传性结直肠癌——最新综述]

[INHERITED COLORECTAL CANCER - UPDATED REVIEW].

作者信息

Abu Shtaya Aasem, Goldberg Yael

机构信息

Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.

Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Harefuah. 2023 Jun;162(6):393-400.

Abstract

Significant progress has been achieved in recent years in the field of cancer genomics. The advancement in genomic technologies, molecular pathology and genetic testing, led to the discovery of novel genetic-hereditary factors, associated with colorectal cancer (CRC). There are currently ~20 identified genes that are linked to a higher risk of developing CRC; some of these genes are also linked to polyposis. The most prevalent hereditary syndrome to cause CRC is Lynch syndrome; its prevalence is believed to be 1:300 worldwide. Clinical data such as the age of onset, ancestry, number of polyps, histological features, molecular characteristics of the tumor and benign findings in other bodily systems, can be used to support the notion that the ailment is hereditary.

摘要

近年来,癌症基因组学领域取得了重大进展。基因组技术、分子病理学和基因检测的进步,促使人们发现了与结直肠癌(CRC)相关的新型遗传-遗传因素。目前已确定约20个与患CRC风险较高相关的基因;其中一些基因也与息肉病有关。导致CRC最常见的遗传性综合征是林奇综合征;据信其在全球的患病率为1:300。诸如发病年龄、血统、息肉数量、组织学特征、肿瘤的分子特征以及其他身体系统的良性发现等临床数据,可用于支持该疾病具有遗传性这一观点。

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