Lista de obras - William Bruno - Dominio Público Uruguay

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.

artículo científico publicado en 2009

Clinical genetic testing for familial melanoma in Italy: A cooperative study

article

Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

artículo científico publicado en 2020

Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.

artículo científico publicado en 2017

Communication of clinically useful next-generation sequencing results to at-risk relatives of deceased research participants: toward active disclosure?

artículo científico publicado en 2013

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

article

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients

artículo científico publicado en 2004

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

artículo científico publicado en 2006

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

article

Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development

artículo científico publicado en 2017

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

artículo científico publicado en 2008

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

artículo científico publicado en 2009

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

artículo científico publicado en 2017

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry

scientific article published on 22 December 2016

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

Identification, genetic testing, and management of hereditary melanoma.

artículo científico publicado en 2017

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

article

Insights into Mechanisms of Tumorigenesis in Neuroendocrine Neoplasms

artículo científico publicado en 2021

MC1Rvariation and melanoma risk in relation to host/clinical and environmental factors inCDKN2Apositive and negative melanoma patients

article

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

artículo científico publicado en 2009

Melanoma risk factors, perceived threat and intentional tanning: an international online survey

artículo científico publicado en 2010

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Novel MC1R variants in Ligurian melanoma patients and controls.

artículo científico publicado en 2004

Predicting the Risk of Pancreatic Cancer: OnCDKN2AMutations in the Melanoma-Pancreatic Cancer Syndrome in Italy

article

Predictors of sun protection behaviors and severe sunburn in an international online study

artículo científico publicado en 2010

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

artículo científico publicado en 2012

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

artículo científico publicado en 2014

Selection criteria for genetic assessment of patients with familial melanoma

artículo científico publicado en 2009

Signs and genetics of rare cancer syndromes with gastroenterological features

artículo científico publicado en 2015

Skin examination behavior: the role of melanoma history, skin type, psychosocial factors, and region of residence in determining clinical and self-conducted skin examination

artículo científico publicado en 2012

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

artículo científico publicado en 2015

Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene

artículo científico publicado en 2008

Lista de obras de William Bruno

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.

Clinical genetic testing for familial melanoma in Italy: A cooperative study

Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.

Communication of clinically useful next-generation sequencing results to at-risk relatives of deceased research participants: toward active disclosure?

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

Identification, genetic testing, and management of hereditary melanoma.

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

Insights into Mechanisms of Tumorigenesis in Neuroendocrine Neoplasms

MC1Rvariation and melanoma risk in relation to host/clinical and environmental factors inCDKN2Apositive and negative melanoma patients

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

Melanoma risk factors, perceived threat and intentional tanning: an international online survey

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

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

Novel MC1R variants in Ligurian melanoma patients and controls.

Predicting the Risk of Pancreatic Cancer: OnCDKN2AMutations in the Melanoma-Pancreatic Cancer Syndrome in Italy

Predictors of sun protection behaviors and severe sunburn in an international online study

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Selection criteria for genetic assessment of patients with familial melanoma

Signs and genetics of rare cancer syndromes with gastroenterological features

Skin examination behavior: the role of melanoma history, skin type, psychosocial factors, and region of residence in determining clinical and self-conducted skin examination

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene