Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.

family history germline multigene panel testing overall survival pancreatic ductal adenocarcinoma

Journal

Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829

Informations de publication

Date de publication:
02 Sep 2021
Historique:
received: 16 07 2021
revised: 24 08 2021
accepted: 27 08 2021
entrez: 10 9 2021
pubmed: 11 9 2021
medline: 11 9 2021
Statut: epublish

Résumé

(1) Background: The proportion and spectrum of germline pathogenic variants (PV) associated with an increased risk for pancreatic ductal adenocarcinoma (PDAC) varies among populations. (2) Methods: We analyzed 72 Belgian and 226 Czech PDAC patients by multigene panel testing. The prevalence of pathogenic variants (PV) in relation to personal/family cancer history were evaluated. PDAC risks were calculated using both gnomAD-NFE and population-matched controls. (3) Results: In 35/298 (11.7%) patients a PV in an established PDAC-predisposition gene was found.

Identifiants

pubmed: 34503238
pii: cancers13174430
doi: 10.3390/cancers13174430
pmc: PMC8431631
pii:
doi:

Types de publication

Journal Article

Langues

eng

Subventions

Organisme : Kom op tegen Kanker
ID : STI.VLK.2017.0007.01
Organisme : Koning Boudewijnstichting
ID : 2017-J1140800- 207846
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : NU20-03-00285
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : RVO-VFN 64165
Organisme : Univerzita Karlova v Praze
ID : SVV 260516
Organisme : Univerzita Karlova v Praze
ID : PROGRES Q28/LF1

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Auteurs

Greet Wieme (G)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.

Jan Kral (J)

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.

Toon Rosseel (T)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.

Petra Zemankova (P)

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.

Bram Parton (B)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.

Michal Vocka (M)

Department of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Mattias Van Heetvelde (M)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.

Petra Kleiblova (P)

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Bettina Blaumeiser (B)

Center of Medical Genetics UZA/UA, Antwerp University Hospital, 2000 Antwerp, Belgium.

Jana Soukupova (J)

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Jenneke van den Ende (J)

Center of Medical Genetics UZA/UA, Antwerp University Hospital, 2000 Antwerp, Belgium.

Petr Nehasil (P)

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Sabine Tejpar (S)

Digestive Oncology Unit, University Hospital Gasthuisberg, 3000 Leuven, Belgium.

Marianna Borecka (M)

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Encarna B Gómez García (EB)

Department of Clinical Genetics, Maastricht University Medical Centre, 6229 GR Maastricht, The Netherlands.
GROW School for Oncology & Developmental Biology, Maastricht University Medical Centre, 6200 MD Maastricht, The Netherlands.

Marinus J Blok (MJ)

Department of Clinical Genetics, Maastricht University Medical Centre, 6229 GR Maastricht, The Netherlands.
GROW School for Oncology & Developmental Biology, Maastricht University Medical Centre, 6200 MD Maastricht, The Netherlands.

Marketa Safarikova (M)

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Marta Kalousova (M)

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Karen Geboes (K)

Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.
Department of Gastroenterology, Ghent University Hospital, 9000 Ghent, Belgium.

Robin De Putter (R)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.

Bruce Poppe (B)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.

Kim De Leeneer (K)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.

Zdenek Kleibl (Z)

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.

Marketa Janatova (M)

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.

Kathleen B M Claes (KBM)

Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
Cancer Research Institute Ghent (CRIG), 9000 Ghent, Belgium.

Classifications MeSH