about
Rare missense variants in POT1 predispose to familial cutaneous malignant melanomaMedulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective.Selection criteria for genetic assessment of patients with familial melanomaIdentification, genetic testing, and management of hereditary melanoma.Predictors of sun protection behaviors and severe sunburn in an international online study.Melanoma risk factors, perceived threat and intentional tanning: an international online survey.Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.Skin examination behavior: the role of melanoma history, skin type, psychosocial factors, and region of residence in determining clinical and self-conducted skin examination.Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry.Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families.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.The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.Signs and genetics of rare cancer syndromes with gastroenterological features.Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene.Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development.Novel MC1R variants in Ligurian melanoma patients and controls.Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMELContribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in ItalyPredicting the Risk of Pancreatic Cancer: OnCDKN2AMutations in the Melanoma-Pancreatic Cancer Syndrome in ItalyFive novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromasMC1Rvariation and melanoma risk in relation to host/clinical and environmental factors inCDKN2Apositive and negative melanoma patientsClinical genetic testing for familial melanoma in Italy: A cooperative studyImpact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastomaEarly onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patientsCommunication of clinically useful next-generation sequencing results to at-risk relatives of deceased research participants: toward active disclosure?Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
William Bruno
@ast
William Bruno
@en
William Bruno
@es
William Bruno
@nl
William Bruno
@sl
type
label
William Bruno
@ast
William Bruno
@en
William Bruno
@es
William Bruno
@nl
William Bruno
@sl
prefLabel
William Bruno
@ast
William Bruno
@en
William Bruno
@es
William Bruno
@nl
William Bruno
@sl
P1053
N-7477-2013
P106
P1153
55574697700
P21
P31
P3829
P496
0000-0002-0337-0168