ArticleHuman molecular genetics2016
Functional characterization of a chr13q22.1 pancreatic cancer risk locus reveals long-range interaction and allele-specific effects on DIS3 expression.
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Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19citing papers in PubMed
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Novel Genetic Risk Loci for Pancreatic Ductal Adenocarcinoma Identified in a Genome-wide Study of African Ancestry Individuals.medRxiv : the preprint server for health sciences · 2026Article
- PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.Cancer cell international · 2025Article
- Allelic effects on KLHL17 expression underlie a pancreatic cancer genome-wide association signal at chr1p36.33.Nature communications · 2025Article
- The Role of Krüppel-like Factors in Pancreatic Physiology and Pathophysiology.International journal of molecular sciences · 2023Review
- Pancreatic Tumorigenesis: Precursors, Genetic Risk Factors and Screening.Current oncology (Toronto, Ont.) · 2022Review
- Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis.Clinical epigenetics · 2022Review
- Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients.Clinical genetics · 2021Article
- A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer.American journal of human genetics · 2021Article
- Susceptibility loci for pancreatic cancer in the Brazilian population.BMC medical genomics · 2021Article
- Article
- Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection.BMC medical genetics · 2020Article
- A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer.Journal of the National Cancer Institute · 2020Article
- Validation of genome-wide association study-identified single nucleotide polymorphisms in a case-control study of pancreatic cancer from Taiwan.Journal of biomedical science · 2020Article
- Emerging epigenomic landscapes of pancreatic cancer in the era of precision medicine.Nature communications · 2019Review
- Genetic variants in SLC22A3 contribute to the susceptibility to colorectal cancer.International journal of cancer · 2019Article
- Novel insights into chromosomal conformations in cancer.Molecular cancer · 2017Review
- Article
- Targeting RNA for processing or destruction by the eukaryotic RNA exosome and its cofactors.Genes & development · 2017Review
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Authors and funding
27 authors at 10 institutions in 1 country.
Jason W HoskinsLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Abdisamad IbrahimLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Mickey A EmmanuelLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Sarah M ManmillerLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Yinglun WuLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Maura O'NeillProtein Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Jinping JiaLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Irene CollinsLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Mingfeng ZhangLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Janelle V ThomasLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Lauren M RostLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Sudipto DasProtein Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Hemang ParikhLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Jefferson M HaakeDepartment of Human Science, NHS, Georgetown University Medical Center, NW, Washington DC, USA.
Gail L MattersDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, PA, USA.
Robert C KurtzDepartment of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
William R BamletDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Alison KleinDepartment of Oncology, the Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Rachael Stolzenberg-SolomonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Brian M WolpinDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
Ronit YardenDepartment of Human Science, NHS, Georgetown University Medical Center, NW, Washington DC, USA.
Zhaoming WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Jill SmithDepartment of Medicine, Georgetown University Hospital, Washington, DC, and Department of Medicine, Penn State University College of Medicine, Hershey PA, USA.
Sara H OlsonDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Thorkell AndressonProtein Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Gloria M PetersenDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Laufey T AmundadottirLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
National Cancer Institute · USNational Institutes of Health · USFrederick National Laboratory for Cancer Research · USGeorgetown University · USMayo Clinic in Florida · USMemorial Sloan Kettering Cancer Center · USPennsylvania State University · USDana-Farber Cancer Institute · USJohns Hopkins Medicine · USUniversity of South Florida · US
Funding
Tumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI JAFFEE, ELIZABETH M. · 1993 to 2022
$54.6MValidation and Fine-Scale Mapping of Pancreatic Cancer Susceptibility Loci (Study)R01CA154823 · NCI · JOHNS HOPKINS UNIVERSITY · PI KLEIN, ALISON P · 2011 to 2020
$5.7MNCI NIH HHS P50 CA062924NCI NIH HHS R01 CA154823
Abstract
Genome-wide association studies (GWAS) have identified multiple common susceptibility loci for pancreatic cancer. Here we report fine-mapping and functional analysis of one such locus residing in a 610 kb gene desert on chr13q22.1 (marked by rs9543325). The closest candidate genes, KLF5, KLF12, PIBF1, DIS3 and BORA, range in distance from 265-586 kb. Sequencing three sub-regions containing the top ranked SNPs by imputation P-value revealed a 30 bp insertion/deletion (indel) variant that was significantly associated with pancreatic cancer risk (rs386772267, P = 2.30 × 10
Indexed as
Chromosomes, Human, Pair 13AllelesCell Line, TumorChromatinChromosome MappingExosome Multienzyme Ribonuclease ComplexGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansINDEL MutationPancreatic NeoplasmsSequence Analysis, DNATranscription FactorsChromatinDIS3 protein, humanExosome Multienzyme Ribonuclease ComplexTranscription Factors
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.