Publications by authors named "Thomas Potjer"

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Melanoma arising from pre-existing naevus in carriers of a germline CDKN2A pathogenic variant.
Daan J W Rauwerdink, Yann Hoogland, Anne M R Schrader, Thomas P Potjer, Ellen Kapiteijn

Br J Dermatol· February 2025

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Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands.
Anouk Frederique Heesters, Carli Tops, Thomas Potjer, Eleonora P M Corssmit, Jean-Pierre Bayley

J Neurol Surg B Skull Base· February 2025

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Polygenic Risk Score Improves Melanoma Risk Assessment in a Patient Cohort from the Veneto Region of Italy.
Stefania Pellegrini, Thomas P Potjer, Paola Del Bianco, Antonella Vecchiato, Alessio Fabozzi

Biology (Basel)· November 2024

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Psychosocial issues of individuals undergoing surveillance for increased risk of melanoma and pancreatic cancer due to a germline CDKN2A variant: A focus group study.
Derk C F Klatte, Anke M Onnekink, Chris Hinnen, Remco van Doorn, Thomas P Potjer

J Genet Couns· October 2024

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The Added Value of Blood Glucose Monitoring in High-Risk Individuals Undergoing Pancreatic Cancer Surveillance.
Aleksander M Bogdanski, Anke M Onnekink, Akin Inderson, Bas Boekestijn, Bert A Bonsing, Thomas P Potjer

Pancreas· August 2024

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Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma.
Derk C F Klatte, Jason S Starr, Kristin E Clift, Heather D Hardway, Jeanin E van Hooft, Thomas P Potjer

JCO Oncol Pract· August 2024

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-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic Variant Carriers.
Monique A M de Jong, Eleonora P M Corssmit, Jeroen C Jansen, Thomas P Potjer, Jean-Pierre L Bayley

Case Rep Otolaryngol· March 2024

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Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
Michael R Sargen, Jung Kim, Thomas P Potjer, Mary E Velthuizen, Arelis E Martir-Negron

JAMA Dermatol· October 2023

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Surveillance for Pancreatic Cancer in High-Risk Individuals Leads to Improved Outcomes: A Propensity Score-Matched Analysis.
Derk C F Klatte, Bas Boekestijn, Anke M Onnekink, Friedo W Dekker, Lydia G van der Geest, Thomas P Potjer

Gastroenterology· June 2023

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Pancreatic Cancer Surveillance in Carriers of a Germline Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up.
Derk C F Klatte, Bas Boekestijn, Martin N J M Wasser, Shirin Feshtali Shahbazi, Isaura S Ibrahim, Thomas P Potjer

J Clin Oncol· October 2022

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Pancreatic cancer surveillance and its ongoing challenges: is it time to refine our eligibility criteria?
Thomas P Potjer

Gut· June 2022

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Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
Thomas P Potjer, Tara W J van der Grinten, Inge M M Lakeman, Sander H Bollen, Mar Rodríguez-Girondo

J Med Genet· November 2021

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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic variants.
Kasper A Overbeek, Mar Dm Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C van den Akker, Thomas P Potjer

J Med Genet· April 2021

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Correction: Putting genome-wide sequencing in neonates into perspective.
Pleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, Emilia K Bijlsma, Regina Bökenkamp-Gramann, Thomas P Potjer

Genet Med· September 2019

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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Cindy Chau, Remco van Doorn, Natasha M van Poppelen, Nienke van der Stoep, Arjen R Mensenkamp, Thomas P Potjer

Cancers (Basel)· August 2019

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Putting genome-wide sequencing in neonates into perspective.
Pleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, Emilia K Bijlsma, Regina Bökenkamp-Gramann, Thomas P Potjer

Genet Med· May 2019

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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Thomas P Potjer, Sander Bollen, Anneliese J E M Grimbergen, Remco van Doorn, Nelleke A Gruis

Int J Cancer· May 2019

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CM-Score: a validated scoring system to predict germline mutations in melanoma families from Northern Europe.
Thomas P Potjer, Hildur Helgadottir, Mirjam Leenheer, Nienke van der Stoep, Nelleke A Gruis

J Med Genet· October 2018

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Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers.
Isaura Ibrahim, Babs G Sibinga Mulder, Bert Bonsing, Hans Morreau, Arantza Farina Sarasqueta, Thomas P Potjer

Eur J Hum Genet· August 2018

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Targeted next-generation sequencing of FNA-derived DNA in pancreatic cancer.
Babs G Sibinga Mulder, J Sven D Mieog, Henricus J M Handgraaf, Arantza Farina Sarasqueta, Hans F A Vasen, Thomas P Potjer

J Clin Pathol· February 2017

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Thomas P Potjer

Am J Hum Genet· January 2017

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Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers.
Hans Vasen, Isaura Ibrahim, Carmen Guillen Ponce, Emily P Slater, Elvira Matthäi, Thomas Potjer

J Clin Oncol· June 2016

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Application of a Serum Protein Signature for Pancreatic Cancer to Separate Cases from Controls in a Pancreatic Surveillance Cohort.
Thomas P Potjer, Bart J Mertens, Simone Nicolardi, Yuri E M van der Burgt, Bert A Bonsing

Transl Oncol· June 2016

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Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.
Aparna Pal, Thomas P Potjer, Soren K Thomsen, Hui Jin Ng, Amy Barrett

Diabetes· February 2016

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Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.
Thomas P Potjer, Nienke van der Stoep, Jeanine J Houwing-Duistermaat, Ingrid C A W Konings, Cora M Aalfs

BMC Res Notes· June 2015

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