Associated Papers
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
Nanobodies restore stability to cancer-associated mutants of tumor suppressor protein p16INK4a.
Burbidge O et al.
Structure (london, England : 1993), 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.
Tovar-Parra D et al.
International Journal of Molecular Sciences, 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 2025
Age-Related Variations in Clinical, Histological, and Genetic Characteristics in Multiple and Familial Melanomas: A Study of 333 Patients.
Carugno A et al.
Journal of Clinical Medicine, 2025
Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.
Nagy P et al.
International Journal of Molecular Sciences, 2024
Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.
Kypreou K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.
Lin Y et al.
Frontiers in Oncology, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
CDKN2A Gene Mutations: Implications for Hereditary Cancer Syndromes.
Danishevich A et al.
Biomedicines, 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
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.
Soares de Sá BC et al.
International Journal of Molecular Sciences, 2023
Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.
Roccuzzo G et al.
Cancers, 2023
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis.
Dal Buono A et al.
Cancers, 2023
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Castaneda-Garcia C et al.
Human Molecular Genetics, 2022
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.
Bruno W et al.
Esmo Open, 2022
Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.
Jeong AR et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 2022
Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients.
Pellegrini C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Clinical Impact of Detecting Low-Frequency Variants in Cell-Free DNA on Treatment of Castration-Resistant Prostate Cancer.
Mizuno K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.
Ferdosi S et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2021
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Vergani E et al.
Genes, 2021
The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer.
Kimura H et al.
Pancreas, 2021