Associated Papers
Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.
Kader T et al.
The Journal of Pathology, 2026
Identifying high-risk melanoma patients: The importance of acquiring a detailed family history.
Jansen MR et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.
Onnekink AM et al.
Molecular Genetics & Genomic Medicine, 2025
An Unexpected Case of Somatic Mosaicism of the Dutch p16-Leiden Founder Variant in the CDKN2A Gene.
van der Meulen M et al.
Case Reports in Genetics, 2025
Psychosocial issues of individuals undergoing surveillance for increased risk of melanoma and pancreatic cancer due to a germline CDKN2A variant: A focus group study.
Klatte DCF et al.
Journal of Genetic Counseling, 2024
Precursor lesions in familial and hereditary pancreatic cancer.
Pflüger MJ et al.
Familial Cancer, 2024
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant.
Onnekink AM et al.
Familial Cancer, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.
Pellegrini C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.
Serman N et al.
Bosnian Journal of Basic Medical Sciences, 2022
Current status of inherited pancreatic cancer.
Olakowski M et al.
Hereditary Cancer in Clinical Practice, 2022
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.
Silver A et al.
Journal of Personalized Medicine, 2022
Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.
Liu TY et al.
Diagnostics (basel, Switzerland), 2022
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020: implications for novel national recommendations.
Pissa M et al.
Acta Oncologica (stockholm, Sweden), 2021
Pancreatic cancer epidemiology: understanding the role of lifestyle and inherited risk factors.
Klein AP
Nature Reviews. Gastroenterology & Hepatology, 2021
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Overbeek KA et al.
Journal of Medical Genetics, 2021
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Loss of Wild-Type CDKN2A Is an Early Event in the Development of Melanoma in FAMMM Syndrome.
Christodoulou E et al.
The Journal of Investigative Dermatology, 2020
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.
Helgadottir H et al.
Journal of Medical Genetics, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Development of esophageal squamous cell cancer in patients with FAMMM syndrome: Two clinical reports.
van der Wilk BJ et al.
European Journal of Medical Genetics, 2020
Recurrent melanoma development in a Caucasian female with CDKN2A+ mutation and FAMMM syndrome: A case report.
Gu K et al.
Sage Open Medical Case Reports, 2020
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.
Christodoulou E et al.
Familial Cancer, 2019
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP et al.
International Journal of Cancer, 2019
Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion.
Stoffel EM et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2019
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Yurgelun MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
Potjer TP et al.
Journal of Medical Genetics, 2018
Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.
Zhan W et al.
Pancreas, 2018
Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers.
Ibrahim I et al.
European Journal of Human Genetics : Ejhg, 2018
Comprehensive review of genetic factors contributing to head and neck squamous cell carcinoma development in low-risk, nontraditional patients.
Gingerich MA et al.
Head & Neck, 2018
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li N et al.
Breast Cancer Research : Bcr, 2018
CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome.
Cremin C et al.
Hereditary Cancer in Clinical Practice, 2018
Application of a multi-gene next-generation sequencing panel to a non-invasive oesophageal cell-sampling device to diagnose dysplastic Barrett's oesophagus.
Katz-Summercorn A et al.
The Journal of Pathology. Clinical Research, 2017
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Jouenne F et al.
Journal of Medical Genetics, 2017
Targeted next-generation sequencing of FNA-derived DNA in pancreatic cancer.
Sibinga Mulder BG et al.
Journal of Clinical Pathology, 2017
Application of a Serum Protein Signature for Pancreatic Cancer to Separate Cases from Controls in a Pancreatic Surveillance Cohort.
Potjer TP et al.
Translational Oncology, 2016
Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.
Chan SH et al.
Npj Genomic Medicine, 2016
Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.
Potjer TP et al.
Bmc Research Notes, 2015
Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant.
Potjer TP et al.
European Journal of Human Genetics : Ejhg, 2015
Constitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations.
Hyland PL et al.
Journal of Carcinogenesis & Mutagenesis, 2014
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.
Maubec E et al.
Journal of the American Academy of Dermatology, 2012