MelaNostrum: a consensus questionnaire of standardized epidemiologic and clinical variables for melanoma risk assessment by the melanostrum consortium

Stratigos, Alexander J.; Fargnoli, Maria Concetta; Nicolo, Arcangela De; Peris, Ketty; Puig, Susana; Soura, Efthymia; Menin, Chiara; Calista, Donato; Ghiorzo, Paola; Mandalà, Mario; Massi, Daniella; Rodolfo, Monica; Regno, Laura Del; Stefanaki, Irene; Gogas, Helen; Bataille, Véronique; Tucker, Margaret A.; Whiteman, David C.; Nagore, Eduardo; Landi, Maria Teresa

doi:10.1111/jdv.15208

Cited by 10 publications

(12 citation statements)

References 58 publications

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“…In order to externally validate models on independent data sets, uniform methods of data acquisition and a complete reporting of all information are necessary. One recent approach to the problem of non-uniform methods for data collection is given by the MelaNostrum consortium [66], which is a collaboration of researchers and clinicians from Mediterranean countries. They developed a consensus questionnaire of epidemiologic and clinical variables for melanoma risk assessment in order to standardize data collection across different studies, centers and languages [66].…”

Section: Discussionmentioning

confidence: 99%

Risk Prediction Models for Melanoma: A Systematic Review on the Heterogeneity in Model Development and Validation

Kaiser

Pfahlberg

Uter

et al. 2020

IJERPH

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The rising incidence of cutaneous melanoma over the past few decades has prompted substantial efforts to develop risk prediction models identifying people at high risk of developing melanoma to facilitate targeted screening programs. We review these models, regarding study characteristics, differences in risk factor selection and assessment, evaluation, and validation methods. Our systematic literature search revealed 40 studies comprising 46 different risk prediction models eligible for the review. Altogether, 35 different risk factors were part of the models with nevi being the most common one (n = 35, 78%); little consistency in other risk factors was observed. Results of an internal validation were reported for less than half of the studies (n = 18, 45%), and only 6 performed external validation. In terms of model performance, 29 studies assessed the discriminative ability of their models; other performance measures, e.g., regarding calibration or clinical usefulness, were rarely reported. Due to the substantial heterogeneity in risk factor selection and assessment as well as methodologic aspects of model development, direct comparisons between models are hardly possible. Uniform methodologic standards for the development and validation of risk prediction models for melanoma and reporting standards for the accompanying publications are necessary and need to be obligatory for that reason.

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Section: Discussionmentioning

confidence: 99%

Risk Prediction Models for Melanoma: A Systematic Review on the Heterogeneity in Model Development and Validation

Kaiser

Pfahlberg

Uter

et al. 2020

IJERPH

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“…There has been a lot of variability amongst the tools to assess skin cancer risk factors in the past 56-61. Recently, a consensus questionnaire for melanoma risk assessment, has been proposed 62. Our tool includes a version of it adapted to CPs, which includes most of items included in its section C (clinical examination and personal and familial history) 62…”

Section: Discussionmentioning

confidence: 99%

Role of community pharmacists in skin cancer screening: A descriptive study of skin cancer risk factors prevalence and photoprotection habits in Barcelona, Catalonia, Spain

Mir¹,

Estrada-Campmany²,

Heredia³

et al. 2019

Pharm Pract (Granada)

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Background:Skin cancer incidence is increasing alarmingly, despite current efforts trying to improve its early detection. Community pharmacists have proven success in implementing screening protocols for a number of diseases because of their skills and easy access.Objective:To evaluate the prevalence of skin cancer risk factors and the photoprotection habits with a questionnaire in community pharmacy users.Methods:A research group consisting of pharmacists and dermatologists conducted a descriptive cross-sectional study to assess photoprotection habits and skin cancer risk factors by using a validated questionnaire in 218 community pharmacies in Barcelona from May 23rd to June 13th 2016. All participants received health education on photoprotection and skin cancer prevention. Patients with ≥1 skin cancer risk factor were referred to their physician, as they needed further screening of skin cancer.Results:A total of 5,530 participants were evaluated. Of those, only 20.2% participants had received a total body skin examination for skin cancer screening in the past by a physician and 57.1% reported using a SPF 50+ sunscreen. 53.9% participants presented ≥1 skin cancer risk factor: 11.8% participants reported having skin cancer familial history and 6.2% reported skin cancer personal history; pharmacists found ≥10 melanocytic nevi in 43.8% participants and chronically sun-damaged skin in 21.4%. Lesions suspicious for melanoma were reported in 10.9% of the participants and urgent dermatological evaluation was recommended.Conclusions:Pharmacists can detect people with skin cancer risk factors amongst their users. This intervention can be considered in multidisciplinary strategies of skin cancer screening.

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“…Other germline codon 57 variants appear to be exceptionally rare, with only a single non-synonymous codon 57 allele (1:g.115256542C > T, c.169G > A, p.D57N) found in gno-mAD (1/113 658 non-Finnish European alleles). While confirming the presence of the variant in DNA from the proband and his mother (used as positive controls), TaqMan genotyping of samples from the MelaNostrum Consortium [13,14] (Online Resource 2) found this alteration to be altogether absent in 5 184 alleles of Italian ancestry (including both melanoma cases and healthy controls; 626 individuals were from the same area of Italy from which the family comes), as well as 12 958 additional alleles of (non-Italian) Mediterranean ancestry (primarily from Greece and Spain). We also examined additional WES data generated from Italians participating in the EAGLE [15] study, with this variant absent in 4 404 Italian alleles (1 371 lung cancer cases and 831 healthy controls) as well in 308 melanoma cases from 109 high-risk melanoma families from the US and Australia.…”

Section: Geneticsmentioning

confidence: 99%

“…cancer. gov/ resea rch/ cancer-types/ melan oma/ melan ostrum) [14] were whole-exome sequenced as a part of previouslypublished study for variant discovery [8]. Sequencing was performed using NimbleGen's SeqCap EZ Human Exome Library v2.0 or v3.0 (Roche NimbleGen, Inc., Madison, WI, USA) and an Illumina HiSeq (Illumina, Inc., San Diego, CA, USA); sequencing, alignment and variant calling was performed as described previously [8].…”

Section: Whole Exome Sequencing Of Melanoma Familiesmentioning

confidence: 99%

“…Sequencing was performed on an ABI 3730xs DNA sequencer and sequence traces were analyzed using Sequencher. Frequency of NRAS c.170A > C (p.D57A) in 6 154 melanoma cases and 2 917 healthy controls from the Melanostrum Consortium [13,14] (Online Resource 2) was assessed using a custom TaqMan genotyping assay with DNAs from two heterozygous carriers on every assay plate as positive controls. Genotyping was performed using the following primers and probes (primers: F:5'-TCT CTC ATG GCA CTG TAC TCT TCT -3', R:5'-TGG TTA TAG ATG GTG AAA CCT GTT TGT; probes: 5'-FAM-CCA GCT GTA GCC AGTAT-3', 5'-VIC-TGT CCA GCT GTA TCC AGT AT-3').…”

Section: Variant Confirmation and Genotyping In The Italian Populationmentioning

confidence: 99%

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Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

Brown

Sargen

et al. 2021

Familial Cancer

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While several high-penetrance melanoma risk genes are known, variation in these genes fail to explain melanoma susceptibility in a large proportion of high-risk families. As part of a melanoma family sequencing study, including 435 families from Mediterranean populations we identified a novel NRAS variant (c.170A > C, p.D57A) in an Italian melanoma-prone family. This variant is absent in exomes in gnomAD, ESP, UKBiobank, and the 1000 Genomes Project, as well as in 11,273 Mediterranean individuals and 109 melanoma-prone families from the US and Australia. This variant occurs in the GTP-binding pocket of NRAS. Differently from other RAS activating alterations, NRAS D57A expression is unable to activate MAPKpathway both constitutively and after stimulation but enhances EGF-induced PI3K-pathway signaling in serum starved conditions in vitro. Consistent with in vitro data demonstrating that NRAS D57A does not enrich GTP binding, molecular modeling suggests that the D57A substitution would be expected to impair Mg2 + binding and decrease nucleotide-binding and GTPase activity of NRAS. While we cannot firmly establish NRAS c.170A > C (p.D57A) as a melanoma susceptibility variant, further investigation of NRAS as a familial melanoma gene is warranted.

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MelaNostrum: a consensus questionnaire of standardized epidemiologic and clinical variables for melanoma risk assessment by the melanostrum consortium

Cited by 10 publications

References 58 publications

Risk Prediction Models for Melanoma: A Systematic Review on the Heterogeneity in Model Development and Validation

Risk Prediction Models for Melanoma: A Systematic Review on the Heterogeneity in Model Development and Validation

Role of community pharmacists in skin cancer screening: A descriptive study of skin cancer risk factors prevalence and photoprotection habits in Barcelona, Catalonia, Spain

Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

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