ArticleAmerican journal of human genetics2016
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
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Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 1 of them a synthesis that pooled it.
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121citing papers in PubMed, 1 pooled it
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Who cites it
121 citing papers in PubMed, 1 synthesis or guideline pooled it, 259 citations in OpenAlex.
- Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.The British journal of surgery · 2024Guideline
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Germline whole-exome sequencing identifies CTNND1 as a candidate gene for hereditary gastric cancer in a large Brazilian cohort.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2026Article
- Advances in Gastric Cancer Research: Insights Into Carcinogenesis, the Tumor Microenvironment, Metastasis, and Factors Influencing Prognosis.Annals of gastroenterological surgery · 2026Review
- Learning the PTM code through a coarse-to-fine mechanism-aware framework.Nature communications · 2026Article
- Robot-Assisted Total Gastrectomy for Gastric Adenocarcinoma and Proximal Polyposis of the Stomach: A Case Report.Cureus · 2026Article
- A rare upstream regulatory region mutation in APC presenting as classical familial adenomatous polyposis: A case report and literature review.Experimental and therapeutic medicine · 2026Article
- Multigene Germline Panel Testing in Gastric Cancer Patients in a Portuguese Population.Cancer medicine · 2026Observational
- Dual promoter-enhancer activities reflect a unified regulatory logic.Nature communications · 2026Article
- Clinicopathological Features and Management of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS).Annals of surgical oncology · 2026Article
- NovelFrontiers in genetics · 2026Article
- ASO Author Reflections: Bridging the Gap-New Insights into the Management of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS).Annals of surgical oncology · 2026Article
- Morular Metaplasia in Fundic Gland Polyps-A Case Report of a Rare Finding in a Common Lesion.Case reports in pathology · 2026Article
- Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With theCase reports in genetics · 2026Article
- Deciphering the Risk of Developing Lung Cancer after the Diagnosis of Gastric Cancer with Genetic Evidence: A European and East Asian Populations-Based Mendelian Randomization Analysis.Cancer research and treatment · 2026Article
- Gastric cancer in China: Epidemiology, risk factors, and screening.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2025Article
- Genomic and transcriptomic landscape of carcinogenesis in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Advances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.Cancers · 2025Review
- Gastric adenocarcinoma with submucosal invasion occurs in a sporadic fundic gland polyp of a Helicobacter pylori-uninfected patient on proton pump inhibitor.Clinical journal of gastroenterology · 2025Article
- A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.Familial cancer · 2025Article
61 more citing papers are in PubMed but not listed here.
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Authors and funding
75 authors at 20 institutions in 6 countries.
Jun LiDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Susan L WoodsSchool of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia.
Sue HealeyDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Jonathan BeesleyDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Xiaoqing ChenDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Jason S LeeDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Haran SivakumaranDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Nicci WayteDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Katia NonesDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Joshua J WaterfallGenetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
John PearsonDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia; Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia.
Anne-Marie PatchDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Janine SenzDepartment of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.
Manuel A FerreiraDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Pardeep KaurahDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Robertson MackenzieDepartment of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada.
Alireza Heravi-MoussaviCanada's Michael Smith Genome Sciences Centre, Vancouver, BC V5Z 4S6, Canada.
Samantha HansfordDepartment of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.
Tamsin R M LannaganSchool of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia.
Amanda B SpurdleDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Peter T SimpsonUQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia; School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia.
Leonard da SilvaUQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia; School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia.
Sunil R LakhaniUQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia; School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia; Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
Andrew D CloustonCentre for Liver Disease Research, TRI Building, University of Queensland, Woolloongabba, QLD 4102, Australia; Envoi Specialist Pathologists, Bishop Street, Kelvin Grove, QLD 4059, Australia.
Mark BettingtonSchool of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia; Envoi Specialist Pathologists, Bishop Street, Kelvin Grove, QLD 4059, Australia; The Conjoint Gastroenterology Laboratory, QIMR Berghofer, Herston, QLD 4029, Australia.
Florian GrimpenDepartments of Gastroenterology and Hepatology, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
Rita A BusuttilCancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia; Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC 3010, Australia.
Natasha Di CostanzoCancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia.
Alex BoussioutasCancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia; Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC 3010, Australia; Department of Gastroenterology, Royal Melbourne Hospital, Parkville, VIC 3010, Australia.
Marie JeanjeanLady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
George ChongMolecular Pathology Centre, Department of Pathology, Jewish General Hospital - McGill University, Montreal, QC H3T 1E2, Canada.
Aurélie FabreAP-HM Timone, Medical Genetics Department, 13385 Marseille, France; Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France; Oncology Unit, Generale de Sante, Clairval Hospital, 13009 Marseille, France.
Sylviane OlschwangAP-HM Timone, Medical Genetics Department, 13385 Marseille, France; Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France; Oncology Unit, Generale de Sante, Clairval Hospital, 13009 Marseille, France.
Geoffrey J FaulknerMater Research Institute, University of Queensland, TRI Building, Woolloongabba, QLD 4102, Australia.
Evangelos BellosInstitute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia; Department of Genomics of Common Disease, Imperial College London, London W12 0NN, UK.
Lachlan CoinInstitute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia.
Kevin RiouxDepartment of Medicine, Division of Gastroenterology, Department of Microbiology and Infectious Diseases, Gastrointestinal Research Group, University of Calgary, Calgary, AB T2N 4N1, Canada.
Oliver F BatheDepartments of Surgery and Oncology, University of Calgary, Calgary, AB T2N 4N1, Canada; Division of Surgical Oncology, Tom Baker Cancer Centre, 1331 29(th) St NW, Calgary, AB T2N 4N1, Canada.
Xiaogang WenInstitute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal; Centro Hospitalar Vila Nova de Gaia/Espinho, Porto 4430-027, Portugal.
Hilary C MartinWellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK.
Deborah W NeklasonDepartment of Internal Medicine, Huntsman Cancer Institute at University of Utah, Salt Lake City, UT 84112, USA.
Sean R DavisGenetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
Robert L WalkerGenetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
Kathleen A CalzoneGenetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
Itzhak AvitalDepartment of Surgery, Saint Peter's University Hospital, Rutgers University, New Brunswick, NJ 08901, USA.
Theo HellerLiver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), NIH, Bethesda, MD 20892, USA.
Christopher KohLiver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), NIH, Bethesda, MD 20892, USA.
Marbin PinedaGenetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
Udo RudloffThoracic and Gastrointestinal Oncology Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
Martha QuezadoLaboratory of Pathology, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
Pavel N PichurinDepartment of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
Peter J HulickCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA.
Scott M WeissmanGeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Anna NewlinCenter for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA.
Wendy S RubinsteinNational Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), NIH, Bethesda, MD 20892, USA.
Jone E SampsonDepartment of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Kelly HammanDepartment of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
David GoldgarDepartment of Dermatology and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Nicola PoplawskiAdult Genetics Unit, SA Pathology at the Women's and Children's Hospital, North Adelaide, SA 5006, Australia; University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia.
Kerry PhillipsAdult Genetics Unit, SA Pathology at the Women's and Children's Hospital, North Adelaide, SA 5006, Australia; University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia.
Lyn SchofieldGenetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA 6008, Australia.
Jacqueline ArmstrongAdult Genetics Unit, SA Pathology at the Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
Cathy Kiraly-BorriGenetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA 6008, Australia.
Graeme K SuthersUniversity Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia.
David G HuntsmanDepartment of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada; Department of Pathology and Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC V6Z 2K5, Canada.
William D FoulkesLady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC H3T 1E2, Canada; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
Fatima CarneiroInstitute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal; Medical Faculty of the University of Porto/Centro Hospitalar São João, Porto 4200-319, Portugal.
Noralane M LindorDepartment of Health Sciences Research, Mayo Clinic, Scottsdale, AZ 85259, USA.
Stacey L EdwardsDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Juliet D FrenchDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia.
Nicola WaddellDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia; Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia.
Paul S MeltzerGenetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.
Daniel L WorthleySchool of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia.
Kasmintan A SchraderDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia. Electronic address: georgia.trench@qimrberghofer.edu.au.
QIMR Berghofer Medical Research Institute · AUThe University of Queensland · AUNational Cancer Institute · USJewish General Hospital · CASouth Australian Health and Medical Research Institute · AUSouth Australia Pathology · AUUniversity of British Columbia · CABC Cancer Agency · CAInserm · FRKing Edward Memorial Hospital · AUNational Institute of Diabetes and Digestive and Kidney Diseases · USNorthShore University HealthSystem · USOregon Health & Science University · USThe Royal Melbourne Hospital · AUUniversity of Calgary · CAUniversity of Utah · USCanada's Michael Smith Genome Sciences Centre · CACentre for Human Genetics · GBCentro Hospitalar de Vila Nova de Gaia · PTMayo Clinic · US
Funding
TCF/LEF function during intestinal maintenance and colon tumorigenesisP01CA073992 · NCI · UNIVERSITY OF UTAH · PI NEKLASON, DEBORAH WOOD · 1998 to 2014
$29.7MCancer Genomics Technology DevelopmentZIABC011091 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MELTZER, PAUL S. · 2009 to 2025
$16.9MCIHR MOP-123517NCI NIH HHS P01 CA073992
Abstract
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families. The mutations reduced binding of the YY1 transcription factor and impaired activity of the APC promoter 1B in luciferase assays. Analysis of blood and saliva from carriers showed allelic imbalance of APC, suggesting that these mutations lead to decreased allele-specific expression in vivo. Similar mutations in APC promoter 1B occur in rare families with familial adenomatous polyposis (FAP). Promoter 1A is methylated in GAPPS and sporadic FGPs and in normal stomach, which suggests that 1B transcripts are more important than 1A in gastric mucosa. This might explain why all known GAPPS-affected families carry promoter 1B point mutations but only rare FAP-affected families carry similar mutations, the colonic cells usually being protected by the expression of the 1A isoform. Gastric polyposis and cancer have been previously described in some FAP-affected individuals with large deletions around promoter 1B. Our finding that GAPPS is caused by point mutations in the same promoter suggests that families with mutations affecting the promoter 1B are at risk of gastric adenocarcinoma, regardless of whether or not colorectal polyps are present.
Indexed as
AdenocarcinomaAdenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinAdenomatous PolypsAllelic ImbalanceDNA Copy Number VariationsExomeExonsFemaleGastric MucosaGenetic LinkageHigh-Throughput Nucleotide SequencingHumansLoss of HeterozygosityMalePedigreeAdenomatous Polyposis Coli ProteinAPC protein, human
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