O melanoma familiar (FM) é uma forma hereditária rara de melanoma caracterizada pelo desenvolvimento de melanoma confirmado histologicamente em dois parentes de primeiro grau ou mais parentes em uma família afetada.
Introdução
O que você precisa saber de cara
O melanoma familiar (FM) é uma forma hereditária rara de melanoma caracterizada pelo desenvolvimento de melanoma confirmado histologicamente em dois parentes de primeiro grau ou mais parentes em uma família afetada.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Multigenic/multifactorial.
Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity)
Cell junction, tight junctionCell membrane
Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest
Cytoplasm
Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein
CytoplasmNucleus
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of P
NucleusChromosome, telomere
Dyskeratosis congenita, autosomal dominant, 6
A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). Upon activation, MC1R couples with the G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway. This activation promotes melanogenesis, resulting in the production of eumelanin (blac
Cell membrane
Melanoma, cutaneous malignant 5
A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.
Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting down
NucleusCytoplasmLysosome membrane
Waardenburg syndrome 2A
WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-de
Nucleus, nucleolusNucleus, nucleoplasmNucleusChromosome, telomereCytoplasmNucleus, PML body
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus
NucleusChromosome, telomere
Tumor predisposition syndrome 3
An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres.
Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repr
NucleusCytoplasmChromosomeChromosome, telomere
Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are ma
CytoplasmNucleusNucleus membrane
Melanoma, cutaneous malignant 3
A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.
Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated
Nucleus
Variantes genéticas (ClinVar)
229 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,931 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
51 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Melanoma familiar
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
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Ensaios em destaque
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Outros ensaios clínicos
4 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.
This study reports co-segregation of a pathogenic CDKN2A variant with both melanoma and breast cancer in a four-generation pedigree. Eighteen individuals were test positive (n = 10), obligate (n = 5) or assumed carriers (n = 3) of the CDKN2A variant. Eleven of these had multiple melanomas, with initial diagnoses from teens to fifties. Six of thirteen female carriers had breast cancer (n = 5 test positive, n = 1 assumed carrier), with diagnoses ranging from thirties to sixties. Additional cancer diagnoses included pancreatic, and head and neck cancers. This study illustrates a possible genotype-phenotype association between a pathogenic CDKN2A variant and the co-occurrence of melanoma and breast cancer in a hereditary context.
Multiple outcomes of the germline p16INK4a mutation affecting senescence and immunity in human skin.
The integrated behaviour of multiple senescent cell types within a single human tissue leading to the development of malignancy is unclear. Patients with Familial Melanoma Syndrome (FMS) have heterozygous germline defects in the CDKN2A gene coding for the cyclin inhibitor p16INK4a. Melanocytes within skin biopsies from FMS patients express significantly less p16INK4a but express higher levels of the DNA-damage protein 𝛾H2AX a than fibroblastic cells. However, patient fibroblasts also exhibit defects since senescent cells do not increase in the skin during ageing and fibroblasts isolated from the skin of patients have increased replicative capacity compared to control fibroblasts in vitro, culminating in abnormal nuclear morphology. Patient derived fibroblasts also secreted less SASP than control cells. Predisposition of FMS patients to melanoma may therefore result from integrated dysregulation of senescence in multiple cell types in vivo. The inherently greater levels of DNA damage and the overdependence of melanocytes on p16 for cell cycle inhibition after DNA damage makes them exquisitely susceptible to malignant transformation. This may be accentuated by senescence-related defects in fibroblasts, in particular reduced SASP secretion that hinders recruitment of T cells in the steady state and thus reduces cutaneous immunosurveillance in vivo.
POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers.
Approximately 5-10% of cutaneous melanoma occurs in individuals with a family history of the disease. While known high-penetrance genes, such as CDKN2A, explain some cases, a substantial proportion of hereditary melanoma remains genetically undefined. Recently, germline variants in genes involved in telomere regulation, including POT1, TERT, ACD, and TERF2IP, have been identified in melanoma-prone families. This study investigated the prevalence and pathogenicity of POT1 variants in a Swedish familial melanoma cohort. Patient/material and methods: A total of 168 familial melanoma cases were screened for CDKN2A, CDK4, BAP1, and POT1. The population frequency of pathogenic variants (PVs) was assessed using the SweGen and the gnomAD databases. Functional evaluation was performed using a saturation genome editing (SGE) assay. Telomere length analysis was performed using quantitative polymerase chain reaction (qPCR) on blood-derived DNA from melanoma patients and healthy controls. The melanomas of the carriers were reviewed by expert dermatopathologists. Among the 161 CDKN2A/CDK4/BAP1-negative melanoma families included in this cohort, only one likely PV in POT1 (c.676C > A, p.His226Asn) was identified (0.6%). Population data confirmed its rarity. The carrier family exhibited multiple early-onset melanomas, with two out of three invasive cases displaying spitzoid morphology, and several other tumors. No significant telomere length differences were observed between carriers and controls. Two additional POT1 variants of uncertain significance were detected; both were predicted to be benign. POT1 PVs were rare in the studied Swedish familial melanoma cases, implying limited contribution to hereditary melanoma in this population. Nonetheless, the identification of a previously unknown likely PV further supports the need for continued genetic screening in selected cases. POT1 testing should be considered in families with multiple melanomas, early onset and spitzoid histopathology, and co-occurring with other syndromic tumors.
Genetic Landscape of Familial Melanoma.
About 10% of all forms of melanoma occur in a familial context and may be due to germline predisposing mutations transmitted as autosomal dominant traits within the affected families. CDKN2A is a highly penetrant gene associated to familial melanomas, being responsible of up to 40% of the cases. Other high, moderate, and low penetrance genes are being discovered, even if their own contribution to melanoma risk is still under debate. Indeed, next generation sequencing-based strategies enable large genomic regions to be analyzed, thus identifying novel candidate genes. These strategies, in diagnostic settings, may also improve the identification of the hereditary cases between all melanomas. The identification of the at-risk subjects gives an important opportunity for cancer surveillance in order to reduce the risk of onset and/or make early diagnosis. In addition, the identification of molecular biomarkers may drive the future development of specific targeted therapies, as already done for other inherited cancer syndromes. Here, we summarize the state of the art regarding the molecular basis of the hereditary susceptibility to develop melanoma.
Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.
Familial melanoma comprises approximately 10% of cutaneous melanomas. Individuals with pathogenic germline variants have a higher risk of developing multiple primary melanomas (MPMs) than individuals who lack these variants. However, differences in clinical, dermoscopic and reflectance confocal microscopy (RCM) features between variant carriers and noncarriers are not well established. To compare the clinical, dermoscopic and RCM characteristics of patients with MPMs with or without the pathogenic germline variants associated with familial melanoma. This retrospective study included 45 patients with MPMs who underwent Sanger sequencing and/or custom next-generation sequencing (NGS) panels between 2020 and 2023. Clinical, dermoscopic and RCM images were reviewed and compared between pathogenic germline variant-positive and pathogenic germline variant-negative groups. Pathogenic germline variants in moderate-risk to high-risk melanoma genes were found in 15 patients. Carriers were diagnosed at a younger age than noncarriers [mean (SD) 41.8 years (10.1) vs. 53.5 (10.4); P < 0.001], more frequently had a family history of melanoma (P = 0.02), had more melanomas arising from pre-existing naevi (P < 0.001) and less actinic damage (P = 0.05). CDKN2A carriers were younger [38.9 years (11.4) vs. 45.3 (7.8)] and had fewer melanomas [2.7 (1.3) vs. 4.1 (1.2); P = 0.05] than MITF or POT1 carriers. CDKN2A carriers had low (n = 5), medium (n = 1) or high (n = 2) naevus counts, while MITF carriers had medium (n = 1) to high (n = 4) counts. Dermoscopically, pathogenic germline variant carriers showed fewer regression structures (8.3% vs. 39.8%; P = 0.01). RCM findings indicated a nonsignificant trend toward more dendritic cell-type melanomas in noncarriers (33.9% vs. 19.4%). Patients with MPMs who carry pathogenic germline variants demonstrate distinct clinical and imaging profiles compared with patients who do not carry these variants. These findings support personalized surveillance of individuals at high risk of developing MPMs and the integration of genetic testing into melanoma management. Further studies with larger cohorts are needed to refine genotype-phenotype associations.
Publicações recentes
Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.
POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers.
Genetic Landscape of Familial Melanoma.
Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.
Telomere length and skin cancer risk: A systematic review and meta-analysis of melanoma, basal cell carcinoma and squamous cell carcinoma.
📚 EuropePMC169 artigos no totalmostrando 143
Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.
Pigment cell & melanoma researchPOT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers.
Acta oncologica (Stockholm, Sweden)Genetic Landscape of Familial Melanoma.
GenesClinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.
Clinical and experimental dermatologyTelomere length and skin cancer risk: A systematic review and meta-analysis of melanoma, basal cell carcinoma and squamous cell carcinoma.
Oncology lettersIdentifying high-risk melanoma patients: The importance of acquiring a detailed family history.
Journal of the European Academy of Dermatology and Venereology : JEADVAge-Related Variations in Clinical, Histological, and Genetic Characteristics in Multiple and Familial Melanomas: A Study of 333 Patients.
Journal of clinical medicineGermline mutations predisposing to melanoma and associated malignancies and syndromes: a narrative review.
International journal of dermatologyCell Senescence and the Genetics of Melanoma Development.
Genes, chromosomes & cancerMultiple outcomes of the germline p16INK4a mutation affecting senescence and immunity in human skin.
Aging cellIdentification and functional validation of a novel pathogenic POT1 germline variant p.G95V in familial melanoma.
JEADV clinical practicePrevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.
Dermatology practical & conceptualVariant ranking pipeline for complex familial disorders.
Scientific reportsCopy number variations in malignant melanoma: genomic regions, biomarkers, and therapeutic targets.
NeoplasmaPOT1 and multiple primary melanomas: the dermatological phenotype.
Journal of medical geneticsP16-CD8-Ki67 Triple Algorithm for Prediction of CDKN2A Mutations in Patients with Multiple Primary and Familial Melanoma.
Diagnostics (Basel, Switzerland)Germline cancer susceptibility in individuals with melanoma.
Journal of the American Academy of Dermatologydrexml: A command line tool and Python package for drug repurposing.
Computational and structural biotechnology journalRisk factors of lentigo maligna as compared to other melanoma subtypes.
International journal of dermatologyATM Variant as a Cause of Hereditary Cutaneous Melanoma in a Spanish Family: Case Report.
Case reports in oncologyFamilial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.
Dermatology practical & conceptualGenetic testing for familial melanoma.
Italian journal of dermatology and venereologyCD8-Lymphocytic Phenotype Significance in Primary Multiple and Familial Melanoma with Various CDKN2A Mutational Status.
Medicina (Kaunas, Lithuania)Immunophenotypic p14 and p16 correlations with CDKN2A mutations in primary multiple and familial melanoma: An observational study.
MedicineTargeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.
Journal of the European Academy of Dermatology and Venereology : JEADVCharacterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.
International journal of molecular sciencesPrognosis of CDKN2A germline mutation in patients with familial melanoma: a systematic review and meta-analysis.
Melanoma researchPhenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.
CancersAssociation of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
JAAD internationalSurveillance, CDKN2A and survival of familial melanoma.
Journal of the European Academy of Dermatology and Venereology : JEADVDiscovery of a previously unreported deletion in the CDKN2A gene in a case of familial melanoma in Austria.
European journal of cancer (Oxford, England : 1990)Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
JAAD case reportsProtocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma.
PloS oneGene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.
JCO precision oncologyNew Insights into Melanoma Tumor Syndromes.
JID innovations : skin science from molecules to population healthAttitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma.
Frontiers in geneticsMelanoma-specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in CDKN2A mutation carriers and non-carriers.
Journal of the European Academy of Dermatology and Venereology : JEADVMultiple primary melanoma in association with other personal and familial cancers.
Cancer medicineClinical and pathological characteristics of familial melanoma with germline TERT promoter variants.
Pigment cell & melanoma researchAmelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism.
The Journal of dermatologyInteractive Beliefs about Genes and Behavior Predict Improved Sun Protection Following Melanoma Genetic Counseling.
Annals of behavioral medicine : a publication of the Society of Behavioral MedicineMelanoma susceptibility: an update on genetic and epigenetic findings.
International journal of molecular epidemiology and geneticsStudy on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.
Asian Pacific journal of cancer prevention : APJCPDNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients.
Frontiers in medicineEpidemiology and Risk Factors of Melanoma: A Review.
Dermatology practical & conceptualFamilial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.
Journal of clinical medicineThe Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.
GenesSomatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.
The Journal of clinical investigationMolecular landscape of Hereditary Melanoma.
Critical reviews in oncology/hematologyNovel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family.
Familial cancerDysplastic Nevi: Morphology and Molecular and the Controversies In-between.
Surgical pathology clinicsCDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020: implications for novel national recommendations.
Acta oncologica (Stockholm, Sweden)A rare germline CDKN2A variant (47T>G; p16-L16R) predisposes carriers to pancreatic cancer by reducing cell cycle inhibition.
The Journal of biological chemistryThe Impact of Longitudinal Surveillance on Tumor Thickness for Melanoma-Prone Families with and without Pathogenic Germline Variants of CDKN2A and CDK4.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive OncologyNuclear Receptor Coactivator NCOA3 Regulates UV Radiation-Induced DNA Damage and Melanoma Susceptibility.
Cancer researchA Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours.
Dermatology (Basel, Switzerland)Early diagnosis of familial melanoma: challenging but feasible.
Journal of the European Academy of Dermatology and Venereology : JEADVA Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes.
Dermatology (Basel, Switzerland)A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
International journal of molecular sciencesGenetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.
BiomoleculesIdentification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
BiomedicinesAssociation between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
Journal of medical geneticsFRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.
Familial cancerPrevalence and indicators of fear of melanoma in patients with familial melanoma during surveillance.
Journal of the European Academy of Dermatology and Venereology : JEADVDysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes.
CancersGenotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Journal of medical geneticsDermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.
Journal of the European Academy of Dermatology and Venereology : JEADVPriority of Risk (But Not Perceived Magnitude of Risk) Predicts Improved Sun-Protection Behavior Following Genetic Counseling for Familial Melanoma.
Annals of behavioral medicine : a publication of the Society of Behavioral MedicineTechnological advances for the detection of melanoma: Advances in molecular techniques.
Journal of the American Academy of DermatologyInsights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.
CancersHistologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain.
Journal of the American Academy of DermatologyLack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer.
Hormones & cancerGenome-wide analysis of constitutional DNA methylation in familial melanoma.
Clinical epigeneticsLoss of Both CDKN2A and CDKN2B Allows for Centrosome Overduplication in Melanoma.
The Journal of investigative dermatologyInvestigation of conformational dynamics of Tyr89Cys mutation in protection of telomeres 1 gene associated with familial melanoma.
Journal of biomolecular structure & dynamicsRole of Heredity in Melanoma Susceptibility: A Primer for the Practicing Surgeon.
The Surgical clinics of North AmericaNEK11 as a candidate high-penetrance melanoma susceptibility gene.
Journal of medical geneticsDelineating the role of MITF isoforms in pigmentation and tissue homeostasis.
Pigment cell & melanoma researchCDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later.
Genetics in medicine : official journal of the American College of Medical GeneticsSolar Lentigines are Associated with Better Outcome in Cutaneous Melanoma.
Acta dermato-venereologicaImpact of Gln94Glu mutation on the structure and function of protection of telomere 1, a cause of cutaneous familial melanoma.
Journal of biomolecular structure & dynamicsFamilial Melanoma: Diagnostic and Management Implications.
Dermatology practical & conceptualSurveillance for familial melanoma: recommendations from a national centre of expertise.
The British journal of dermatologyEstimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
Journal of the American Academy of DermatologyProgress report on the major clinical advances in patient-oriented research into familial melanoma (2013-2018).
Familial cancerAssociation of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
JAMA dermatologyPOT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.
The British journal of dermatologyMultigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
International journal of cancerGuidelines of care for the management of primary cutaneous melanoma.
Journal of the American Academy of DermatologyEfficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.
Journal of medical geneticsCDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients.
Journal of the American Academy of DermatologyMelanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers.
Archives of dermatological researchCDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive OncologyHereditary melanoma: a five-year study of Brazilian patients in a cancer referral center - phenotypic characteristics of probands and pathological features of primary tumors.
Anais brasileiros de dermatologiaResults of surveillance in individuals at high-risk of pancreatic cancer: A systematic review and meta-analysis.
United European gastroenterology journalCDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.
Acta dermato-venereologicaGenome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q.
European journal of human genetics : EJHGCM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
Journal of medical geneticsA Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma.
Journal of the National Cancer InstituteUnscheduled Visits of Patients with Familial Melanoma to a Pigmented Lesion Clinic: Evaluation of Patients' Characteristics and Suspicious Lesions.
Acta dermato-venereologicaGermline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.
G3 (Bethesda, Md.)Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.
Journal of the National Cancer InstituteCharacteristics of Familial Melanoma in Valencia, Spain, Based on the Presence of CDKN2A Mutations and MC1R Variants.
Acta dermato-venereologicaGenetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk.
Translational behavioral medicineCytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin.
Molecular cytogeneticsGenetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress.
Journal of genetic counselingPoint mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.
The British journal of dermatologyA novel germline mutation in CDK4 codon 24 associated to familial melanoma.
Clinical geneticsRare germline variants in known melanoma susceptibility genes in familial melanoma.
Human molecular geneticsCancer risks and survival in patients with multiple primary melanomas: Association with family history of melanoma and germline CDKN2A mutation status.
Journal of the American Academy of DermatologyA germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges.
Journal of medical geneticsFamilial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
Clinical neuropathology[Increased knowledge on familial melanoma and the underlying genetics].
LakartidningenFamilial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy.
Acta dermato-venereologicaCharacterization of melanoma susceptibility genes in high-risk patients from Central Italy.
Melanoma researchFamilial melanoma and multiple primary melanoma.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografiaGenetic predisposition to melanoma.
Seminars in oncologyDifferences in telomere length between sporadic and familial cutaneous melanoma.
The British journal of dermatologyRare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma.
The Journal of investigative dermatologyGermline CDKN2A Mutation Status and Survival in Familial Melanoma Cases.
Journal of the National Cancer InstituteInverse Association Between Atopy and Melanoma: A Case-control Study.
Acta dermato-venereologicaRole of rare germline copy number variation in melanoma-prone patients.
Future oncology (London, England)Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity.
Familial cancerHereditary melanoma: Update on syndromes and management: Emerging melanoma cancer complexes and genetic counseling.
Journal of the American Academy of DermatologyHereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.
Journal of the American Academy of DermatologyDetection of Exosomal miRNAs in the Plasma of Melanoma Patients.
Journal of clinical medicineAbsence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?
Cancer biology & therapyCorrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
NatureLoss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.
DiabetesUpdate in genetic susceptibility in melanoma.
Annals of translational medicineGermline TERT promoter mutations are rare in familial melanoma.
Familial cancerGenetics of melanoma progression: the rise and fall of cell senescence.
Pigment cell & melanoma researchNovel CDKN2A mutations in Austrian melanoma patients.
Melanoma researchTumor-suppressor Genes, Cell Cycle Regulatory Checkpoints, and the Skin.
North American journal of medical sciencesCDKN2a mutation-negative melanoma families have increased risk exclusively for skin cancers but not for other malignancies.
International journal of cancerGenetic epidemiology of malignant melanoma susceptibility.
Melanoma managementClinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.
Journal of clinical & experimental dermatology researchFrequency and characteristics of familial melanoma in Spain: the FAM-GEM-1 Study.
PloS oneImpact of melanoma genetic test reporting on perceived control over melanoma prevention.
Journal of behavioral medicine[Molecular diagnostics in melanoma].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteConstitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations.
Journal of carcinogenesis & mutagenesisRisk of Next Melanoma in Patients With Familial and Sporadic Melanoma by Number of Previous Melanomas.
JAMA dermatologyHistologic features of melanoma associated with CDKN2A genotype.
Journal of the American Academy of DermatologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.
- Multiple outcomes of the germline p16INK4a mutation affecting senescence and immunity in human skin.
- POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers.
- Genetic Landscape of Familial Melanoma.
- Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.
- Telomere length and skin cancer risk: A systematic review and meta-analysis of melanoma, basal cell carcinoma and squamous cell carcinoma.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:618(Orphanet)
- MONDO:0018961(MONDO)
- GARD:3460(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
