ArticleFrontiers in oncology2021
Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk.
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Article in Frontiers in oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Exploring genetic diversity in genome-wide association studies and polygenic risk scores in the admixed Brazilian population.Genetics and molecular biology · 2026Article
- Review
- Real-Life Results of Palliative Chemotherapy in Metastatic Pancreatic Ductal Adenocarcinoma.Cancers · 2023Article
- Endoscopic ultrasound-guided fine-needle aspiration pancreatic adenocarcinoma samples yield adequate DNA for next-generation sequencing: A cohort analysis.World journal of gastroenterology · 2023Article
- Circulating Cell-Free Nucleic Acids as Biomarkers for Diagnosis and Prognosis of Pancreatic Cancer.Biomedicines · 2023Review
- Clustering analysis revealed the autophagy classification and potential autophagy regulators' sensitivity of pancreatic cancer based on multi-omics data.Cancer medicine · 2023Article
- Role of pancreatic ductal adenocarcinoma risk factors in intraductal papillary mucinous neoplasm progression.Frontiers in oncology · 2023Article
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Authors and funding
69 authors at 20 institutions in 10 countries.
Ye LuGenomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Manuel GentiluomoDepartment of Biology, University of Pisa, Pisa, Italy.
Angelica MacaudaGenomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Domenica GioffredaDivision of Gastroenterology and Research Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Maria GazouliDepartment of Basic Medical Sciences, Laboratory of Biology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Maria C PetronePancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Dezső KelemenDepartment of Surgery, Medical School, University of Pécs, Pécs, Hungary.
Laura GinocchiOncological Department, Oncological Unit of Massa Carrara, Azienda Unità Sanitaria Locale (USL) Toscana Nord Ovest, Carrara, Italy.
Luca MorelliGeneral Surgery, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Konstantinos PapirisEndoscopic Surgery Department, Hippocratio General Hospital of Athens, Athens, Greece.
William GreenhalfDepartment of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, United Kingdom.
Jakob R IzbickiDepartment of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Vytautas KiudelisDepartment of Gastroenterology, Institute for Digestive Research, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Beatrice Mohelníková-DuchoňováDepartment of Oncology, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Olomouc, Czechia.
Bas Bueno-de-MesquitaDepartment for Determinants of Chronic Diseases (DCD), National Institute for Public Health and the Environment (RIVM), Bilthoven, Netherlands.
Pavel VodickaDepartment of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czechia.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Markus K DienerDepartment of General Surgery, University of Heidelberg, Heidelberg, Germany.
Raffaele PezzilliDepartment of Internal Medicine, San Carlo Hospital, Potenza, Italy.
Audrius IvanauskasDepartment of Gastroenterology, Institute for Digestive Research, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Roberto SalviaDepartment of General and Pancreatic Surgery, The Pancreas Institute, University and Hospital Trust of Verona, Verona, Italy.
Andrea SzentesiInstitute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.
Mateus Nóbrega AokiLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Curitiba, Brazil.
Balázs C NémethFirst Department of Medicine, University of Szeged, Szeged, Hungary.
Cosimo SpertiDepartment of Surgery-Dipartimento di Scienze Chirurgiche Oncologiche e Gastroenterologiche (DiSCOG), Padua University Hospital, Padua, Italy.
Krzysztof JamroziakDepartment of Hematology, Transplantation and Internal Medicine, Medical University of Warsaw, Warsaw, Poland.
Roger ChammasDepartment of Radiology and Oncology, Institute of Cancer of São Paulo (ICESP), São Paulo, Brazil.
Martin OliveriusDepartment of Surgery, Faculty Hospital Kralovske Vinohrady and Third Faculty of Medicine, Charles University, Prague, Czechia.
Livia ArchibugiPancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Stefano ErminiBlood Transfusion Service, Children's Hospital, Azienda Ospedaliero-Universitaria Meyer, Florence, Italy.
János NovákPándy Kálmán Hospital of Békés County, Gyula, Hungary.
Juozas KupcinskasDepartment of Gastroenterology, Institute for Digestive Research, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Ondřej StrouhalDepartment of Oncology, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Olomouc, Czechia.
Pavel SoučekBiomedical Center, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czechia.
Giulia M CavestroDivision of Experimental Oncology, Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
Anna C MilanettoDepartment of Surgery-Dipartimento di Scienze Chirurgiche Oncologiche e Gastroenterologiche (DiSCOG), Padua University Hospital, Padua, Italy.
Giuseppe VanellaPancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
John P NeoptolemosDepartment of General Surgery, University of Heidelberg, Heidelberg, Germany.
George E TheodoropoulosFirst Propaedeutic University Surgery Clinic, Hippocratio General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Hanneke W M van LaarhovenDepartment of Medical Oncology, Cancer Center Amsterdam, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.
Andrea MambriniOncological Department, Oncological Unit of Massa Carrara, Azienda Unità Sanitaria Locale (USL) Toscana Nord Ovest, Carrara, Italy.
Stefania MozDepartment of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Zdenek KalaDepartment of Surgery, University Hospital Brno Bohunice, Faculty of Medicine, Masaryk University, Brno, Czechia.
Martin LovečekDepartment of Surgery I, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Olomouc, Czechia.
Daniela BassoDepartment of Medicine (DIMED), Padua University Hospital, Padua, Italy.
Faik G UzunogluDepartment of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Thilo HackertDepartment of General Surgery, University of Heidelberg, Heidelberg, Germany.
Sabrina G G TestoniPancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Viktor HlaváčBiomedical Center, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czechia.
Angelo AndriulliDivision of Gastroenterology and Research Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Maurizio LucchesiOncological Department, Oncological Unit of Massa Carrara, Azienda Unità Sanitaria Locale (USL) Toscana Nord Ovest, Carrara, Italy.
Francesca TavanoDivision of Gastroenterology and Research Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Silvia CarraraDivision of Gastroenterology and Digestive Endoscopy, Department of Gastroenterology, Humanitas Clinical and Research Center Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Péter HegyiInstitute for Translational Medicine, Medical School, University of Pécs, Pécs, Hungary.
Paolo G ArcidiaconoPancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Olivier R BuschDepartment of Surgery, Cancer Center Amsterdam, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.
Rita T LawlorApplied Research on Cancer (ARC)-Net Research Center, University and Hospital Trust of Verona, Verona, Italy.
Marta PuzzonoDivision of Experimental Oncology, Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.
Ugo BoggiDivision of General and Transplant Surgery, Pisa University Hospital, Pisa, Italy.
Feng GuoDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ewa Małecka-PanasDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Gabriele CapursoPancreato-Biliary Endoscopy and Endosonography Division, Pancreas Translational and Clinical Research Center, San Raffaele Scientific Institute Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Stefano LandiDepartment of Biology, University of Pisa, Pisa, Italy.
Renata Talar-WojnarowskaDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Oliver StrobelDepartment of General Surgery, University of Heidelberg, Heidelberg, Germany.
Xin GaoDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Yogesh VashistCentre for Surgical Oncology, Medias Klinikum Burghausen, Burghausen, Germany.
Daniele CampaDepartment of Biology, University of Pisa, Pisa, Italy.
Federico CanzianGenomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Istituti di Ricovero e Cura a Carattere Scientifico · ITGerman Cancer Research Center · DEHeidelberg University · DEUniversity of Padua · ITUniversity of Pisa · ITAzienda Usl Toscana Centro · ITCharles University · CZLithuanian University of Health Sciences · LTCTO Andrea Alesini · ITMedical University of Lodz · PLNational and Kapodistrian University of Athens · GRUniversität Hamburg · DEUniversity Hospital Olomouc · CZUniversity of Pecs · HUUniversity of Szeged · HUAmsterdam University Medical Centers · NLBékés Megyei Központi Kórház · HUCasa Sollievo della Sofferenza · ITFundação Carlos Chagas · BRHippocration General Hospital · GR
Funding
Medical Research Council MC_UU_12015/1Medical Research Council MR/N003284/1
Abstract
Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry. Six single nucleotide polymorphisms (SNPs) showed associations with pancreatic cancer risk according to a recessive model of inheritance. We replicated these variants in 3,212 cases and 3,470 controls collected from the PANcreatic Disease ReseArch (PANDoRA) consortium. The results of the meta-analyses confirmed that rs4626538 (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31) showed specific recessive effects (p<10
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genetic polymorphismsgenome-wide association studypancreatic cancerrecessive modelsusceptibility
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