List of works - Joan Anton Puig-Butille

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.

scientific article

Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status

scientific article published on 28 October 2016

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma

scientific article published on 16 June 2011

CDKN2A mutations in melanoma families from Uruguay.

scientific article

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

scientific article published on 17 December 2015

Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.

scientific article

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma.

scientific article published on 10 September 2014

Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.

scientific article published on 15 September 2008

Detection of cell-free circulating BRAFV 600E by droplet digital polymerase chain reaction in patients with and without melanoma under dermatological surveillance

scientific article published on 12 August 2019

Discrepant mutational status between naevi and melanomas in naevus-associated melanomas: about mutation-specific immunohistochemistry: reply from the authors

scientific article published on 16 June 2016

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

scientific article published on October 2013

Early Stages of Melanoma on the Limbs of High-risk Patients: Clinical, Dermoscopic, Reflectance Confocal Microscopy and Histopathological Characterization for Improved Recognition

scientific article published on 01 March 2011

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

scientific article

Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma

scientific article published on February 2013

Genetic counseling in melanoma.

scientific article

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

scientific article published on 27 April 2020

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

scientific article

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

article

Impact of sunscreens on preventing UVR-induced effects in nevi: in vivo study comparing protection using a physical barrier vs sunscreen.

scientific article published in July 2013

Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR

scientific article published in 2021

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

scientific article

Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival

scientific article

Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

scientific article published on 26 September 2017

Molecular characterization of human cutaneous melanoma-derived cell lines.

scientific article

Multiple BRAF Wild-Type Melanomas During Dabrafenib Treatment for Metastatic BRAF-Mutant Melanoma.

scientific article published on May 2015

Mutation of the tumour suppressor p33ING1b is rare in melanoma.

scientific article published on July 2006

Mutational status of naevus-associated melanomas.

scientific article

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

scientific article published on 27 February 2019

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

scientific article

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations

scientific article published on 9 December 2015

Prognostic value of tyrosinase reverse transcriptase PCR analysis in melanoma sentinel lymph nodes: long-term follow-up analysis

scientific article published on 05 May 2009

Reply

scientific article published on 12 December 2015

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters

scientific article published on July 2013

Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona.

scientific article

TERT gene amplification is associated with poor outcome in acral lentiginous melanoma

scientific article

TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma

scientific article

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

scientific article published on 13 March 2015

The effect on melanoma risk of genes previously associated with telomere length

scientific article

Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.

scientific article

Update in genetic susceptibility in melanoma

scientific article

List of works by Joan Anton Puig-Butille

A variant in FTO shows association with melanoma risk not due to BMI

Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.

Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma

CDKN2A mutations in melanoma families from Uruguay.

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma.

Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.

Detection of cell-free circulating BRAFV 600E by droplet digital polymerase chain reaction in patients with and without melanoma under dermatological surveillance

Discrepant mutational status between naevi and melanomas in naevus-associated melanomas: about mutation-specific immunohistochemistry: reply from the authors

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

Early Stages of Melanoma on the Limbs of High-risk Patients: Clinical, Dermoscopic, Reflectance Confocal Microscopy and Histopathological Characterization for Improved Recognition

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma

Genetic counseling in melanoma.

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Genome-wide association study identifies three new melanoma susceptibility loci

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

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

Impact of sunscreens on preventing UVR-induced effects in nevi: in vivo study comparing protection using a physical barrier vs sunscreen.

Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival

Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

Molecular characterization of human cutaneous melanoma-derived cell lines.

Multiple BRAF Wild-Type Melanomas During Dabrafenib Treatment for Metastatic BRAF-Mutant Melanoma.

Mutation of the tumour suppressor p33ING1b is rare in melanoma.

Mutational status of naevus-associated melanomas.

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations

Prognostic value of tyrosinase reverse transcriptase PCR analysis in melanoma sentinel lymph nodes: long-term follow-up analysis

Reply

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters

Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona.

TERT gene amplification is associated with poor outcome in acral lentiginous melanoma

TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

The effect on melanoma risk of genes previously associated with telomere length

Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.

Update in genetic susceptibility in melanoma