IRIS
BRUNO, WILLIAM
 Distribuzione geografica
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Continente #
EU - Europa 5.670
Totale 5.670
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Nazione #
IT - Italia 5.670
Totale 5.670
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Città #
Genova 4.074
Rapallo 800
Genoa 738
Vado Ligure 30
Bordighera 28
Totale 5.670
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Nome #
Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry 171
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 154
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup 143
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. 139
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients 138
Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene 135
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 133
CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. 132
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. 131
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148 129
Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: Interplay between germline and somatic variations 128
Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome 127
Identification, genetic testing, and management of hereditary melanoma 126
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. 124
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 123
Communication of Clinically Useful Next-Generation Sequencing Results to At-Risk Relatives of Deceased Research Participants: Toward Active Disclosure? 121
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. 120
Signs and genetics of rare cancer syndromes with gastroenterological features 119
Clinical genetic testing for familial melanoma in Italy: a cooperative study. 117
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL 116
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 114
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations 111
Novel MC1R variants in Ligurian melanoma patients and controls 107
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma 105
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 104
The CDKN2A/p16INK4a 5'UTR sequence and translational regulation: Impact of novel variants predisposing to melanoma 103
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. 103
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT 102
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. 98
Selection criteria for genetic assessment of patients with familial melanoma 98
Impact of novel CDKN2A/p16INK4a 5’UTR variants predisposing to melanoma on p16 translational regulation 97
Functional analysis of a CDKN2A 5’UTR germline variant associated with pancreatic cancer development 97
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 96
Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family. 92
ANALISI GENOME-WIDE PER LA SUSCETTIBILITÀ AL MELANOMA: NUOVI LOCICHE CONFERMANO IL RUOLO DEI GENI DELLA PIGMENTAZIONE 89
Absence of high risk gene mutations in hereditary melanoma points to the interplay between somatic and low risk germline variants 88
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. 87
MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. 86
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations 85
Correction: Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: Interplay between germline and somatic variations [Oncotarget. 2018; 9:5691-5702]doi 10.18632/oncotarget.23204 85
A case of four synchronous cutaneous melanomas: Melanocortin 1 receptor polymorphisms and excessive sun exposure 83
Novel MC1R variants and phenotypic expression of red hair in Ligurian melanoma patients and controls. 81
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas 79
Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents 75
Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy 73
Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients 67
Current State of Target Treatment in BRAF Mutated Melanoma 67
Skin examination behavior: The role of melanoma history, skin type, psychosocial factors, and region of residence in determining clinical and self-conducted skin examination 66
Insights into genetic susceptibility to melanoma by gene panel testing: Potential pathogenic variants in acd, atm, bap1, and pot1 64
Multiple primary melanoma (MPM) as a valid criterion for genetic assessment : an Italian IMI multi-center study 62
The Current State of Molecular Testing in the BRAF-Mutated Melanoma Landscape 52
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia 44
Predictors of sun protection behaviors and severe sunburn in an international online study 43
Insights into mechanisms of tumorigenesis in neuroendocrine neoplasms 39
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing 37
Melanoma risk factors, perceived threat and intentional tanning: An international online survey 36
Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families 36
Beyond BRCA: The Emerging Significance of DNA Damage Response and Personalized Treatment in Pancreatic and Prostate Cancer Patients 36
Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications 35
Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients 35
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting 29
Definitions of genetic testing in Italian legal documents 26
Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma 23
Molecular Assessment in Patients with Melanoma: When and Why? 23
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup 20
Seven Synchronous Primary Melanomas on the Back 17
A Glance at Molecular Advances in Cancer Genetics: A Baffling Puzzle Still to Be Solved 13
Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer 8
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort 8
Pancreatic Cancer: From Genetic Mechanisms to Translational Challenges 8
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome 4
Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients 3
Special Issue “Molecular Advances in Cancer Genetics 3.0” 1
Totale 5.866
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Categoria #
all - tutte 19.870
article - articoli 18.962
book - libri 0
conference - conferenze 785
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 123
Totale 39.740
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.413 0 39 69 106 152 165 222 113 138 218 155 36
2020/2021540 39 38 50 60 30 23 27 45 56 74 55 43
2021/2022760 24 43 62 78 35 63 48 165 54 72 32 84
2022/2023968 103 78 11 100 195 118 3 72 152 5 117 14
2023/2024593 21 55 8 71 34 109 35 52 35 22 40 111
2024/202561 38 23 0 0 0 0 0 0 0 0 0 0
Totale 5.866