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A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer
(Public Library of Science, 2012-09-25)
Objective: Early-onset colorectal cancer (CRC) represents a clinically distinct form of CRC that is often associated with a poor prognosis. Methylation levels of genomic repeats such as LINE-1 elements have been recognized ...
Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer
(MDPI, 2019-03-13)
Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial ...
Colorectal Cancer Genetic Variants Are Also Associated with Serrated Polyposis Syndrome Susceptibility
(BMJ Publishing Group, 2020-10)
Background Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic ...
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing
(Lippincott Williams & Wilkins, 2019-09-19)
OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown. Here, we combined whole-exome sequencing (WES) and linkage ...
Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer
(Wiley, 2019-11)
Colorectal cancer (CRC) is a complex disorder for which the majority of the underlying germline predisposition factors remain still unidentified. Here, we combined whole-exome sequencing (WES) and linkage analysis in ...