Pathology and genetics of hereditary colorectal cancer

被引：136

作者：

Ma, Huiying ^{[1
]}

Brosens, Lodewijk A. A. ^{[1
]}

Offerhaus, G. Johan A. ^{[1
]}

Giardiello, Francis M. ^{[2
]}

de Leng, Wendy W. J. ^{[1
]}

Montgomery, Elizabeth A. ^{[3
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Pathol, NL-3584 CX Utrecht, Netherlands

[2] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA

[3] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA

来源：

PATHOLOGY | 2018年 / 50卷 / 01期

关键词：

Familial colon cancer; hereditary polyposis syndrome; genetic defect; PEUTZ-JEGHERS-SYNDROME; FAMILIAL ADENOMATOUS POLYPOSIS; MUTYH-ASSOCIATED POLYPOSIS; MULTIPLE INTESTINAL NEOPLASIA; LARGE GENOMIC DELETIONS; TUMOR-SUPPRESSOR GENE; STEM-CELL DYNAMICS; OF-THE-LITERATURE; LYNCH-SYNDROME; JUVENILE POLYPOSIS;

D O I：

10.1016/j.pathol.2017.09.004

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYHassociated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions. Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms of colorectal carcinogenesis. This review summarises the genetic and pathological alterations in hereditary CRC syndromes.

引用

页码：49 / 59

页数：11

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