Associated Papers
Structural analysis of the impact of germline mutations of p16 in melanoma prone families.
Arun D et al.
Molecular Diversity, 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
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
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
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
De Simone P et al.
International Journal of Molecular Sciences, 2020
Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.
Quetel L et al.
Molecular Oncology, 2020
Genetic predisposition to pancreatic cancer.
Ghiorzo P
World Journal of Gastroenterology, 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
A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers.
Natrajan R et al.
The Journal of Pathology, 2012
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.
Ghiorzo P et al.
Journal of Medical Genetics, 2012
EDNRB gene variants and melanoma risk in two southern European populations.
Spica T et al.
Clinical and Experimental Dermatology, 2011
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F et al.
Journal of the National Cancer Institute, 2010
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
Kannengiesser C et al.
Human Mutation, 2009
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Goldstein AM et al.
Journal of Medical Genetics, 2007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM et al.
Cancer Research, 2006
CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families.
Lang J et al.
The British Journal of Dermatology, 2005
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
CDKN2A novel mutation in a patient from a melanoma-prone family.
Grammatico P et al.
Melanoma Research, 2001
Mutation screening of the CDKN2A promoter in melanoma families.
Harland M et al.
Genes, Chromosomes & Cancer, 2000
Mutation testing in melanoma families: INK4A, CDK4 and INK4D.
Newton Bishop JA et al.
British Journal of Cancer, 1999