Search Results - "Potjer TP"

Melanoma arising from pre-existing naevus in carriers of a germline CDKN2A pathogenic variant.

Authors: Rauwerdink DJW Hoogland Y Schrader AMR et al.

Source: The British journal of dermatology [Br J Dermatol] 2025 Feb 18; Vol. 192 (3), pp. 546-548.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE; In Process

Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant.

Authors: Onnekink AM Klatte DCF van Hooft JE et al.

Source: Familial cancer [Fam Cancer] 2024 Aug; Vol. 23 (3), pp. 255-265. Date of Electronic Publication: 2024 Jun 01.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

An Unexpected Case of Somatic Mosaicism of the Dutch p16-Leiden Founder Variant in the CDKN2A Gene.

Authors: van der Meulen M van Wezel JT Terlouw D et al.

Source: Case reports in genetics [Case Rep Genet] 2025 Aug 28; Vol. 2025, pp. 6261903. Date of Electronic Publication: 2025 Aug 28 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101583302 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6544 (Print) Linking ISSN: 20906552 NLM ISO Abbreviation: Case Rep Genet Subsets: In Process

Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.

Authors: Sargen MR Kim J Potjer TP et al.

Source: JAMA dermatology [JAMA Dermatol] 2023 Oct 01; Vol. 159 (10), pp. 1112-1118.

Publication Type: Journal Article; Research Support, N.I.H., Intramural

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589530 Publication Model: Print Cited Medium: Internet ISSN: 2168-6084 (Electronic) Linking ISSN: 21686068 NLM ISO Abbreviation: JAMA Dermatol Subsets: MEDLINE

Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.

Authors: Onnekink AM Klatte DCF van Hooft JE et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2025 Feb; Vol. 13 (2), pp. e70045.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Polygenic Risk Score Improves Melanoma Risk Assessment in a Patient Cohort from the Veneto Region of Italy.

Authors: Pellegrini S Potjer TP Del Bianco P et al.

Source: Biology [Biology (Basel)] 2024 Nov 20; Vol. 13 (11). Date of Electronic Publication: 2024 Nov 20.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE

Psychosocial issues of individuals undergoing surveillance for increased risk of melanoma and pancreatic cancer due to a germline CDKN2A variant: A focus group study.

Authors: Klatte DCF Onnekink AM Hinnen C et al.

Source: Journal of genetic counseling [J Genet Couns] 2024 Oct; Vol. 33 (5), pp. 1059-1069. Date of Electronic Publication: 2023 Oct 25.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma.

Authors: Klatte DCF Starr JS Clift KE et al.

Source: JCO oncology practice [JCO Oncol Pract] 2024 Aug; Vol. 20 (8), pp. 1081-1090. Date of Electronic Publication: 2024 Apr 15.

Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101758685 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2688-1535 (Electronic) Linking ISSN: 26881527 NLM ISO Abbreviation: JCO Oncol Pract Subsets: MEDLINE

The Added Value of Blood Glucose Monitoring in High-Risk Individuals Undergoing Pancreatic Cancer Surveillance.

Authors: Bogdanski AM Onnekink AM Inderson A et al.

Source: Pancreas [Pancreas] 2024 Aug 01; Vol. 53 (7), pp. e566-e572. Date of Electronic Publication: 2024 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8608542 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4828 (Electronic) Linking ISSN: 08853177 NLM ISO Abbreviation: Pancreas Subsets: MEDLINE

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

Authors: de Jong MAM Corssmit EPM Jansen JC et al.

Source: Case reports in otolaryngology [Case Rep Otolaryngol] 2024 Mar 20; Vol. 2024, pp. 2111531. Date of Electronic Publication: 2024 Mar 20 (Print Publication: 2024).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101576603 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6765 (Print) Linking ISSN: 20906773 NLM ISO Abbreviation: Case Rep Otolaryngol Subsets: PubMed not MEDLINE

Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.

Authors: Christodoulou E Visser M Potjer TP et al.

Source: Familial cancer [Fam Cancer] 2019 Oct; Vol. 18 (4), pp. 439-444.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Surveillance for familial melanoma: recommendations from a national centre of expertise.

Authors: Halk AB Potjer TP Kukutsch NA et al.

Source: The British journal of dermatology [Br J Dermatol] 2019 Sep; Vol. 181 (3), pp. 594-596. Date of Electronic Publication: 2019 May 01.

Publication Type: Letter

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

Surveillance for Pancreatic Cancer in High-Risk Individuals Leads to Improved Outcomes: A Propensity Score-Matched Analysis.

Authors: Klatte DCF Boekestijn B Onnekink AM et al.

Corporate Authors: Klatte DCF Boekestijn B Onnekink AM et al.

Source: Gastroenterology [Gastroenterology] 2023 Jun; Vol. 164 (7), pp. 1223-1231.e4. Date of Electronic Publication: 2023 Mar 06.

Publication Type: Journal Article

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Authors: Potjer TP Bollen S Grimbergen AJEM et al.

Corporate Authors: Potjer TP Bollen S Grimbergen AJEM et al.

Source: International journal of cancer [Int J Cancer] 2019 May 15; Vol. 144 (10), pp. 2453-2464. Date of Electronic Publication: 2019 Jan 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0215 (Electronic) Linking ISSN: 00207136 NLM ISO Abbreviation: Int J Cancer

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

Authors: Klatte DCF Boekestijn B Wasser MNJM et al.

Source: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2022 Oct 01; Vol. 40 (28), pp. 3267-3277. Date of Electronic Publication: 2022 Jun 03.

Publication Type: Journal Article

Journal Info: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-7755 (Electronic) Linking ISSN: 0732183X NLM ISO Abbreviation: J Clin Oncol Subsets: MEDLINE

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Authors: Suerink M Potjer TP Versluijs AB et al.

Source: Clinical genetics [Clin Genet] 2018 Jan; Vol. 93 (1), pp. 134-137. Date of Electronic Publication: 2017 Sep 15.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

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

Authors: Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands t.p.potjer@lumc.nl.

Source: Gut [Gut] 2022 Jun; Vol. 71 (6), pp. 1047-1049. Date of Electronic Publication: 2021 Jun 18.

Publication Type: Journal Article; Comment

Journal Info: Publisher: British Medical Assn Country of Publication: England NLM ID: 2985108R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-3288 (Electronic) Linking ISSN: 00175749 NLM ISO Abbreviation: Gut Subsets: MEDLINE

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

Authors: Potjer TP van der Grinten TWJ Lakeman IMM et al.

Source: Journal of medical genetics [J Med Genet] 2021 Nov; Vol. 58 (11), pp. 760-766. Date of Electronic Publication: 2020 Sep 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.

Authors: Pal A Potjer TP Thomsen SK et al.

Source: Diabetes [Diabetes] 2016 Feb; Vol. 65 (2), pp. 527-33. Date of Electronic Publication: 2015 Nov 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.

Authors: Overbeek KA Rodríguez-Girondo MD Wagner A et al.

Source: Journal of medical genetics [J Med Genet] 2021 Apr; Vol. 58 (4), pp. 264-269. Date of Electronic Publication: 2020 Jun 01.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE