Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine

Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Hereditary CRC syndromes account for approximately 5–10% of all CRC, with a lifetime risk of CRC that approaches 50–80% in the absence of endoscopic or surgical treatment. Hereditary CRC syndromes can be phenotypically di...

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Main Authors: Liuxiang Chen, Liansong Ye, Bing Hu
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Biomedicines
Subjects:
Online Access:https://www.mdpi.com/2227-9059/10/12/3207
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author Liuxiang Chen
Liansong Ye
Bing Hu
author_facet Liuxiang Chen
Liansong Ye
Bing Hu
author_sort Liuxiang Chen
collection DOAJ
description Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Hereditary CRC syndromes account for approximately 5–10% of all CRC, with a lifetime risk of CRC that approaches 50–80% in the absence of endoscopic or surgical treatment. Hereditary CRC syndromes can be phenotypically divided into polyposis and non-polyposis syndrome, mainly according to the conditions of polyps. The typical representatives are familial adenomatous polyposis (FAP) and Lynch syndromes (LS), respectively. Over the past few decades, molecular genetics enhanced the discovery of cancer-predisposing genes and revolutionized the field of clinical oncology. Hereditary CRC syndromes have been a key part of this effort, with data showing that pathogenic variants are present in up to 10% of cases. Molecular phenotypes of tumors can not only help identify individuals with genetic susceptibility to CRC but also guide the precision prevention and treatment for the development of CRC. This review emphasizes the molecular basis and prevention strategies for hereditary CRC syndromes.
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spelling doaj.art-8658d91518964b4cbfd8301de96374892023-11-24T13:28:42ZengMDPI AGBiomedicines2227-90592022-12-011012320710.3390/biomedicines10123207Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision MedicineLiuxiang Chen0Liansong Ye1Bing Hu2Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu 610041, ChinaDepartment of Gastroenterology, West China Hospital, Sichuan University, Chengdu 610041, ChinaDepartment of Gastroenterology, West China Hospital, Sichuan University, Chengdu 610041, ChinaColorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Hereditary CRC syndromes account for approximately 5–10% of all CRC, with a lifetime risk of CRC that approaches 50–80% in the absence of endoscopic or surgical treatment. Hereditary CRC syndromes can be phenotypically divided into polyposis and non-polyposis syndrome, mainly according to the conditions of polyps. The typical representatives are familial adenomatous polyposis (FAP) and Lynch syndromes (LS), respectively. Over the past few decades, molecular genetics enhanced the discovery of cancer-predisposing genes and revolutionized the field of clinical oncology. Hereditary CRC syndromes have been a key part of this effort, with data showing that pathogenic variants are present in up to 10% of cases. Molecular phenotypes of tumors can not only help identify individuals with genetic susceptibility to CRC but also guide the precision prevention and treatment for the development of CRC. This review emphasizes the molecular basis and prevention strategies for hereditary CRC syndromes.https://www.mdpi.com/2227-9059/10/12/3207hereditary colorectal cancer syndromespredisposing genesprevention strategies
spellingShingle Liuxiang Chen
Liansong Ye
Bing Hu
Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine
Biomedicines
hereditary colorectal cancer syndromes
predisposing genes
prevention strategies
title Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine
title_full Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine
title_fullStr Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine
title_full_unstemmed Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine
title_short Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine
title_sort hereditary colorectal cancer syndromes molecular genetics and precision medicine
topic hereditary colorectal cancer syndromes
predisposing genes
prevention strategies
url https://www.mdpi.com/2227-9059/10/12/3207
work_keys_str_mv AT liuxiangchen hereditarycolorectalcancersyndromesmoleculargeneticsandprecisionmedicine
AT liansongye hereditarycolorectalcancersyndromesmoleculargeneticsandprecisionmedicine
AT binghu hereditarycolorectalcancersyndromesmoleculargeneticsandprecisionmedicine