SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers

Autor: Monique A. M. de Jong, Eleonora P. M. Corssmit, Jeroen C. Jansen, Thomas P. Potjer, Jean-Pierre L. Bayley, Erik F. Hensen

Publikováno v: Case Reports in Otolaryngology, Vol 2024 (2024)

Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that SDHAF2 variants exclusively cause benign and often multicentric head and neck paragangliomas. Here, we present a patient diagnosed w

Externí odkaz: https://doaj.org/article/c340520502634510a385d32b1333df7f

Pancreatic Cancer Surveillance in Carriers of a Germline CDKN2A Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up

Autor: Derk C.F. Klatte, Bas Boekestijn, Martin N.J.M. Wasser, Shirin Feshtali Shahbazi, Isaura S. Ibrahim, J. Sven D. Mieog, Saskia A.C. Luelmo, Hans Morreau, Thomas P. Potjer, Akin Inderson, Jurjen J. Boonstra, Friedo W. Dekker, Hans F.A. Vasen, Jeanin E. van Hooft, Bert A. Bonsing, Monique E. van Leerdam

Publikováno v: Journal of Clinical Oncology, 40(28), 3267-+. LIPPINCOTT WILLIAMS & WILKINS
Journal of clinical oncology, 4:JCO.22.00194. American Society of Clinical Oncology

PURPOSE Pancreatic cancer surveillance in high-risk individuals may lead to detection of pancreatic ductal adenocarcinoma (PDAC) at an earlier stage and with improved survival. This study evaluated the yield and outcomes of 20 years of prospective su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57901fc7720a92a0562e19863a9c4813
https://doi.org/10.1200/jco.22.00194

Guideline compliance and outcomes of genetic testing in pancreatic cancer patients

Autor: Derk C.F. Klatte, Heather D. Hardway, Jason S. Starr, Douglas L. Riegert-Johnson, Kristin E. Clift, Thomas P. Potjer, Monique E. van Leerdam, R. John Presutti, Michael B. Wallace, Yan Bi

Publikováno v: Journal of Clinical Oncology. 41:688-688

688 Background: Guidelines recommend patients with pancreatic ductal adenocarcinoma (PDAC) undergo genetic testing for germline pathogenic variants (PV). The aim of this study was to evaluate compliance with recently updated guidelines (May 2019) and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0fbe99b9a255b7e7b21738cd87ee986e
https://doi.org/10.1200/jco.2023.41.4_suppl.688

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

Autor: Lambertus A. Kiemeney, Inge M. M. Lakeman, Mar Rodríguez-Girondo, Tara W J van der Grinten, Jennifer H. Barrett, Thomas P. Potjer, Mark M. Iles, Christi J. van Asperen, Nienke van der Stoep, Nelleke A. Gruis, Sander Bollen

Publikováno v: Journal of Medical Genetics, 58(11), 760-766. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics, 58, 760-766
Journal of Medical Genetics, 2021(58), 760-766. BMJ Publishing Group
Journal of Medical Genetics, 58, 11, pp. 760-766

BackgroundFamilial clustering of melanoma suggests a shared genetic predisposition among family members, but only 10%–40% of familial cases carry a pathogenic variant in a known high-risk melanoma susceptibility gene. We investigated whether a mela

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ab7607027d0f8c06f5ea07758f8d20
https://jmg.bmj.com/content/jmedgenet/early/2020/09/28/jmedgenet-2020-107251.full.pdf

Correction: Putting genome-wide sequencing in neonates into perspective

Autor: Regina Bökenkamp-Gramann, Daniela Q.C.M. Barge-Schaapveld, Monique Williams, Julie W. Rutten, Karin van der Tuin, Esther A. R. Nibbeling, Claudia A. L. Ruivenkamp, Sylke J. Steggerda, Laura Donker Kaat, Dietje E. Fransen van de Putte, Remco van Doorn, Marjolein Kriek, Ruben S G M Witlox, Maartje van Rij, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Thomas P. Potjer, Emilia K. Bijlsma, Setareh Moghadasi, Yvette van Ierland, Manon Suerink, Emmelien Aten, Gijs W. E. Santen, Remco Visser, Anne Sophie van der Werf–t Lam, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Ratna N G B Tan, Nicolette S. den Hollander, Arend D. J. ten Harkel, Yvonne Hilhorst-Hofstee

Publikováno v: Genetics in Medicine. 21:2159-2164

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Articl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bcea68d20998bde8f8bee4e1a815b939
https://doi.org/10.1038/s41436-018-0363-3