Familial Melanoma: Diagnostic and Management Implications

Familial Melanoma: Diagnostic and Management Implications is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.5826/DPC.0901A03
P932PMC publication ID6368081
P698PubMed publication ID30775140

P2093author name stringCristina Pellegrini
Maria Concetta Fargnoli
Valeria Ciciarelli
Mariarita Rossi
Lucia Di Nardo
Ludovica Cardelli
P2860cites workPOT1 loss-of-function variants predispose to familial melanomaQ24563091
Update in genetic susceptibility in melanomaQ26778756
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanomaQ28270834
TERT promoter mutations in familial and sporadic melanomaQ29614920
Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.Q33368679
Melanoma genetics and the development of rational therapeuticsQ33726956
Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the Melanoma Genetics ConsortiumQ33743737
Rare missense variants in POT1 predispose to familial cutaneous malignant melanomaQ33751971
Germline p16 mutations in familial melanomaQ34059915
Final version of the American Joint Committee on Cancer staging system for cutaneous melanomaQ34086791
Geographical variation in the penetrance of CDKN2A mutations for melanomaQ34134115
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancersQ34218657
Genetics of familial melanoma: 20 years after CDKN2A.Q34449957
Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndromeQ34520664
Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposureQ34553701
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sampleQ34561891
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.Q34602917
A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancersQ34973438
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanomaQ35102528
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United KingdomQ35180844
Pancreatic carcinoma surveillance in patients with familial melanomaQ35202340
MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP projectQ35230315
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanomaQ35577168
A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaQ35699278
Germline TERT promoter mutations are rare in familial melanomaQ35798435
Selection criteria for genetic assessment of patients with familial melanomaQ35840024
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Meta-analysis of risk factors for cutaneous melanoma: III. Family history, actinic damage and phenotypic factorsQ36242298
Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.Q36266148
Genetic counseling in melanoma.Q36314787
BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITsQ36384018
International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancerQ36648118
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variantsQ36712918
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continentsQ37004819
BAP1 and cancerQ37221089
MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysisQ37699929
Defining the patient at high risk for melanomaQ37750988
MITF, the Janus transcription factor of melanoma.Q38081986
Emerging trends in the epidemiology of melanomaQ38118359
Clinical applications of melanoma genetics.Q38197938
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk AssessmentQ38214084
A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutationQ38442858
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinomaQ39455824
Receptor function, dominant negative activity and phenotype correlations for MC1R variant allelesQ40110422
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative MutationsQ40229413
Multiple primary melanoma revisitedQ42521143
Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.Q43922716
Population-based study of natural variation in the melanocortin-1 receptor gene and melanomaQ44634512
Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.Q50224889
Clinical, dermoscopic, and confocal features of nevi and melanomas in a multiple primary melanoma patient with the MITF p.E318K homozygous mutationQ87894970
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.Q50492928
Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features.Q50503860
Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways.Q50670089
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.Q50706320
Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.Q55395329
High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMELQ56437244
Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4MutationsQ57250780
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locusQ57269211
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion ofp16 (p16-Leiden)Q57948729
Familial melanoma and pancreatic cancerQ57948921
Clinical genetic testing for familial melanoma in Italy: A cooperative studyQ61314849
Characterization of ligurian melanoma families and risk of occurrence of other neoplasiaQ73046674
Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndromeQ73792192
High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma familiesQ74098963
Familial melanoma, pancreatic cancer and germline CDKN2A mutationsQ80094576
CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified familiesQ81529844
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectdiagnosisQ16644043
familial melanomaQ18557380
management implicationQ122759851
P304page(s)10-16
P577publication date2019-01-01
P1433published inDermatology practical & conceptualQ27724640
P1476titleFamilial Melanoma: Diagnostic and Management Implications
P478volume9

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