ArticleThe Journal of pathology2015
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
Article in The Journal of pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Senescence-associated and immune-related 9p21.3 locus genes in colorectal cancer: epigenetic architecture, molecular landscape and therapeutic possibilities.Frontiers in cell and developmental biology · 2026Review
- FOCAD Gene Defect Resulting in Rapidly Progressing Neonatal Liver Cirrhosis Requiring Transplant.Cureus · 2025Article
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
- Article
- Comprehensive characterization of ubiquitinome of human colorectal cancer and identification of potential survival-related ubiquitination.Journal of translational medicine · 2022Article
- Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.Nature genetics · 2022Article
- 9p21.3 Microdeletion involvingCold Spring Harbor molecular case studies · 2022Review
- Article
- Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.Journal of clinical medicine · 2020Review
- Mammalian RNA Decay Pathways Are Highly Specialized and Widely Linked to Translation.Molecular cell · 2020Article
- Hsa_circ_0001361 promotes bladder cancer invasion and metastasis through miR-491-5p/MMP9 axis.Oncogene · 2020Article
- Current status of the genetic susceptibility in attenuated adenomatous polyposis.World journal of gastrointestinal oncology · 2019Review
- A genome-wide scan of cleft lip triads identifies parent-of-origin interaction effects betweenF1000Research · 2019Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- Attenuated adenomatous polyposis of the large bowel: Present and future.World journal of gastroenterology · 2017Article
- miR-491-5p, mediated by Foxi1, functions as a tumor suppressor by targeting Wnt3a/β-catenin signaling in the development of gastric cancer.Cell death & disease · 2017Article
- Inter-tissue coexpression network analysis reveals DPP4 as an important gene in heart to blood communication.Genome medicine · 2016Article
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 4 countries.
Funding
Abstract
Heritable genetic variants can significantly affect the lifetime risk of developing cancer, including polyposis and colorectal cancer (CRC). Variants in genes currently known to be associated with a high risk for polyposis or CRC, however, explain only a limited number of hereditary cases. The identification of additional genetic causes is, therefore, crucial to improve CRC prevention, detection and treatment. We have performed genome-wide and targeted DNA copy number profiling and resequencing in early-onset and familial polyposis/CRC patients, and show that deletions affecting the open reading frame of the tumour suppressor gene FOCAD are recurrent and significantly enriched in CRC patients compared with unaffected controls. All patients carrying FOCAD deletions exhibited a personal or family history of polyposis. RNA in situ hybridization revealed FOCAD expression in epithelial cells in the colonic crypt, the site of tumour initiation, as well as in colonic tumours and organoids. Our data suggest that monoallelic germline deletions in the tumour suppressor gene FOCAD underlie moderate genetic predisposition to the development of polyposis and CRC.
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