Updates in the field of hereditary nonpolyposis colorectal cancer : Expert Review of Gastroenterology & Hepatology

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Peltomäki , P , Olkinuora , A & Nieminen , T T 2020 , ' Updates in the field of hereditary nonpolyposis colorectal cancer : Expert Review of Gastroenterology & Hepatology ' , Expert Review of Gastroenterology and Hepatology , vol. 14 , no. 8 , pp. 707-720 . https://doi.org/10.1080/17474124.2020.1782187

Title: Updates in the field of hereditary nonpolyposis colorectal cancer : Expert Review of Gastroenterology & Hepatology
Author: Peltomäki, Paivi; Olkinuora, Alisa; Nieminen, Taina T.
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
Date: 2020-08-02
Language: eng
Number of pages: 14
Belongs to series: Expert Review of Gastroenterology and Hepatology
ISSN: 1747-4124
URI: http://hdl.handle.net/10138/318745
Abstract: ABSTRACT Introduction Up to one third of colorectal cancers show familial clustering and 5% are hereditary single-gene disorders. Hereditary non-polyposis colorectal cancer comprises DNA mismatch repair-deficient and -proficient subsets, represented by Lynch syndrome (LS) and familial colorectal cancer type X (FCCTX), respectively. Accurate knowledge of molecular etiology and genotype-phenotype correlations are critical for tailored cancer prevention and treatment. Areas covered The authors highlight advances in the molecular dissection of hereditary non-polyposis colorectal cancer, based on recent literature retrieved from PubMed. Future possibilities for novel gene discoveries are discussed. Expert commentary LS is molecularly well established, but new information is accumulating of the associated clinical and tumor phenotypes. FCCTX remains poorly defined, but several promising candidate genes have been discovered and share some preferential biological pathways. Multi-level characterization of specimens from large patient cohorts representing multiple populations, combined with proper bioinformatic and functional analyses, will be necessary to resolve the outstanding questions.
Subject: 3121 General medicine, internal medicine and other clinical medicine
3122 Cancers
Hereditary non-polyposis colorectal cancer
lynch syndrome
familial colorectal cancer type X
DNA mismatch repair
genomic instability
germline mutation
constitutional epimutation
MISMATCH REPAIR-DEFICIENCY
LYNCH-SYNDROME
GERMLINE MUTATIONS
RIBOSOMAL-PROTEIN
DNA-DAMAGE
GENOMIC REARRANGEMENTS
PROMOTER METHYLATION
ENDOMETRIAL CANCERS
POLYPOSIS SYNDROME
SOMATIC MUTATIONS
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