ArticlePloS one2015
High Prevalence and Clinical Relevance of Genes Affected by Chromosomal Breaks in Colorectal Cancer.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- FBXW7 Gene Mutation and Expression in Colorectal Cancer (CRC): A Systematic Review from Molecular Mechanisms to Clinical Translation.International journal of molecular sciences · 2025Pooled it
- Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.Scientific reports · 2020Article
- Transcriptome sequencing analysis of mono‑ADP‑ribosylation in colorectal cancer cells.Oncology reports · 2020Article
- Latency and interval therapy affect the evolution in metastatic colorectal cancer.Scientific reports · 2020Article
- Review
- A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer.BMC cancer · 2019Article
- Tumour budding is associated with the mesenchymal colon cancer subtype and RAS/RAF mutations: a study of 1320 colorectal cancers with Consensus Molecular Subgroup (CMS) data.British journal of cancer · 2018Article
- Chromosomal rearrangements in uveal melanoma: Chromothripsis.Genes, chromosomes & cancer · 2018Article
- MACROD2 expression predicts response to 5-FU-based chemotherapy in stage III colon cancer.Oncotarget · 2018Article
- Modern work-up and extended resection in perihilar cholangiocarcinoma: the AMC experience.Langenbeck's archives of surgery · 2018Review
- Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults.Frontiers in genetics · 2018Article
- Chromothripsis and progression-free survival in metastatic colorectal cancer.Molecular and clinical oncology · 2017Article
- ATM induces MacroD2 nuclear export upon DNA damage.Nucleic acids research · 2017Article
- Genomic profiling of stage II and III colon cancers reveals APC mutations to be associated with survival in stage III colon cancer patients.Oncotarget · 2016Article
- GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes.F1000Research · 2016Article
- Three Poliovirus Sequences in the Human Genome Associated With Colorectal Cancer.Cancer genomics & proteomicsArticle
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14 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCancer is caused by somatic DNA alterations such as gene point mutations, DNA copy number aberrations (CNA) and structural variants (SVs). Genome-wide analyses of SVs in large sample series with well-documented clinical information are still scarce. Consequently, the impact of SVs on carcinogenesis and patient outcome remains poorly understood. This study aimed to perform a systematic analysis of genes that are affected by CNA-associated chromosomal breaks in colorectal cancer (CRC) and to determine the clinical relevance of recurrent breakpoint genes.
methodsPrimary CRC samples of patients with metastatic disease from CAIRO and CAIRO2 clinical trials were previously characterized by array-comparative genomic hybridization. These data were now used to determine the prevalence of CNA-associated chromosomal breaks within genes across 352 CRC samples. In addition, mutation status of the commonly affected APC, TP53, KRAS, PIK3CA, FBXW7, SMAD4, BRAF and NRAS genes was determined for 204 CRC samples by targeted massive parallel sequencing. Clinical relevance was assessed upon stratification of patients based on gene mutations and gene breakpoints that were observed in >3% of CRC cases.
resultsIn total, 748 genes were identified that were recurrently affected by chromosomal breaks (FDR <0.1). MACROD2 was affected in 41% of CRC samples and another 169 genes showed breakpoints in >3% of cases, indicating that prevalence of gene breakpoints is comparable to the prevalence of well-known gene point mutations. Patient stratification based on gene breakpoints and point mutations revealed one CRC subtype with very poor prognosis.
conclusionsWe conclude that CNA-associated chromosomal breaks within genes represent a highly prevalent and clinically relevant subset of SVs in CRC.
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