Associated Papers
Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.
Nogué C et al.
Familial Cancer, 2025
Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.
Zacharias M et al.
Cancers, 2024
Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
Sargen MR et al.
Jama Dermatology, 2023
Blood tumor mutational burden and dynamic changes in circulating tumor DNA predict response to pembrolizumab treatment in advanced non-small cell lung cancer.
Stensgaard S et al.
Translational Lung Cancer Research, 2023
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Genetic analysis of multiple primary melanomas arising within the boundaries of congenital nevi depigmentosa.
Fuiten AM et al.
Pigment Cell & Melanoma Research, 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
Telomere alterations in neurofibromatosis type 1-associated solid tumors.
Rodriguez FJ et al.
Acta Neuropathologica Communications, 2019
Identification of CDKN2A variants in breast cancer patients in Pakistan.
Khan R et al.
Genes & Genetic Systems, 2019
CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.
Aftab A et al.
Breast Cancer (tokyo, Japan), 2019
Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma.
Thibodeau ML et al.
Npj Precision Oncology, 2018
CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature.
Sargen MR et al.
The British Journal of Dermatology, 2016
Genetically-defined novel oral squamous cell carcinoma cell lines for the development of molecular therapies.
Fadlullah MZ et al.
Oncotarget, 2016
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.
Rutter JL et al.
Oncogene, 2003