Associated Papers
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
Sargen MR et al.
Jnci Cancer Spectrum, 2022
Principles of molecular testing for hereditary cancer.
Mighton C et al.
Genes, Chromosomes & Cancer, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.
Beddok A et al.
Scientific Reports, 2021
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 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
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
Lincoln SE et al.
Jama Network Open, 2020
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
Altered TERT promoter and other genomic regulatory elements: occurrence and impact.
Heidenreich B et al.
International Journal of Cancer, 2017
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Puig S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.
Andreotti V et al.
Pigment Cell & Melanoma Research, 2016
Genetics of familial melanoma: 20 years after CDKN2A.
Aoude LG et al.
Pigment Cell & Melanoma Research, 2015
Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma.
de Ávila AL et al.
Familial Cancer, 2014
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
Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
Cao X et al.
The Journal of Investigative Dermatology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
Harland M et al.
Hereditary Cancer in Clinical Practice, 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
Detection of exon skipping events in BRCA1 RNA using MLPA kit P002.
Brandão RD et al.
Molecular Biology Reports, 2012
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.
Ghiorzo P et al.
Journal of Medical Genetics, 2012
Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer.
Yang XR et al.
Familial Cancer, 2011
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.
Cust AE et al.
Journal of Medical Genetics, 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
Novel CDKN2A mutation detected in Spanish melanoma pedigree.
de Torre C et al.
Experimental Dermatology, 2010
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.
Bisio A et al.
Human Molecular Genetics, 2010
Clinical genetic testing for familial melanoma in Italy: a cooperative study.
Bruno W et al.
Journal of the American Academy of Dermatology, 2009
Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.
Council ML et al.
Experimental Dermatology, 2009
Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas.
Helsing P et al.
Genes, Chromosomes & Cancer, 2008
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
Gensini F et al.
Melanoma Research, 2007
CDKN2A and CDK4 variants in Latvian melanoma patients: analysis of a clinic-based population.
Pjanova D et al.
Melanoma Research, 2007
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
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
Ghiorzo P et al.
Human Molecular Genetics, 2006
MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.
Niendorf KB et al.
Journal of Medical Genetics, 2006
Germline CDKN2A mutations among Greek patients with early-onset and multiple primary cutaneous melanoma.
Stratigos AJ et al.
The Journal of Investigative Dermatology, 2006
Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.
Laud K et al.
Journal of Medical Genetics, 2006
Prevalence of 9p21 deletions in UK melanoma families.
Mistry SH et al.
Genes, Chromosomes & Cancer, 2005
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas.
Majore S et al.
The Journal of Investigative Dermatology, 2004
INK4/ARF germline alterations in pancreatic cancer patients.
Ghiorzo P et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2004
Germline splicing mutations of CDKN2A predispose to melanoma.
Loo JC et al.
Oncogene, 2003
Genetic and environmental factors in cutaneous malignant melanoma.
Bressac-de-Paillerets B et al.
Biochimie, 2002
A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.
Harland M et al.
Human Molecular Genetics, 2001