scholarly article | Q13442814 |
P2093 | author name string | Cristina Pellegrini | |
Maria Concetta Fargnoli | |||
Valeria Ciciarelli | |||
Mariarita Rossi | |||
Lucia Di Nardo | |||
Ludovica Cardelli | |||
P2860 | cites work | POT1 loss-of-function variants predispose to familial melanoma | Q24563091 |
Update in genetic susceptibility in melanoma | Q26778756 | ||
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma | Q28270834 | ||
TERT promoter mutations in familial and sporadic melanoma | Q29614920 | ||
Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. | Q33368679 | ||
Melanoma genetics and the development of rational therapeutics | Q33726956 | ||
Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the Melanoma Genetics Consortium | Q33743737 | ||
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma | Q33751971 | ||
Germline p16 mutations in familial melanoma | Q34059915 | ||
Final version of the American Joint Committee on Cancer staging system for cutaneous melanoma | Q34086791 | ||
Geographical variation in the penetrance of CDKN2A mutations for melanoma | Q34134115 | ||
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers | Q34218657 | ||
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 syndrome | Q34520664 | ||
Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposure | Q34553701 | ||
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample | Q34561891 | ||
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 cancers | Q34973438 | ||
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma | Q35102528 | ||
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom | Q35180844 | ||
Pancreatic carcinoma surveillance in patients with familial melanoma | Q35202340 | ||
MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project | Q35230315 | ||
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma | Q35577168 | ||
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma | Q35699278 | ||
Germline TERT promoter mutations are rare in familial melanoma | Q35798435 | ||
Selection criteria for genetic assessment of patients with familial melanoma | Q35840024 | ||
Meta-analysis of risk factors for cutaneous melanoma: I. Common and atypical naevi | Q35993051 | ||
Meta-analysis of risk factors for cutaneous melanoma: III. Family history, actinic damage and phenotypic factors | Q36242298 | ||
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 MBAITs | Q36384018 | ||
International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer | Q36648118 | ||
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants | Q36712918 | ||
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents | Q37004819 | ||
BAP1 and cancer | Q37221089 | ||
MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis | Q37699929 | ||
Defining the patient at high risk for melanoma | Q37750988 | ||
MITF, the Janus transcription factor of melanoma. | Q38081986 | ||
Emerging trends in the epidemiology of melanoma | Q38118359 | ||
Clinical applications of melanoma genetics. | Q38197938 | ||
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment | Q38214084 | ||
A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation | Q38442858 | ||
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma | Q39455824 | ||
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles | Q40110422 | ||
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations | Q40229413 | ||
Multiple primary melanoma revisited | Q42521143 | ||
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 melanoma | Q44634512 | ||
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 mutation | Q87894970 | ||
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 GenoMEL | Q56437244 | ||
Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4Mutations | Q57250780 | ||
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus | Q57269211 | ||
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 cancer | Q57948921 | ||
Clinical genetic testing for familial melanoma in Italy: A cooperative study | Q61314849 | ||
Characterization of ligurian melanoma families and risk of occurrence of other neoplasia | Q73046674 | ||
Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome | Q73792192 | ||
High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families | Q74098963 | ||
Familial melanoma, pancreatic cancer and germline CDKN2A mutations | Q80094576 | ||
CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families | Q81529844 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | diagnosis | Q16644043 |
familial melanoma | Q18557380 | ||
management implication | Q122759851 | ||
P304 | page(s) | 10-16 | |
P577 | publication date | 2019-01-01 | |
P1433 | published in | Dermatology practical & conceptual | Q27724640 |
P1476 | title | Familial Melanoma: Diagnostic and Management Implications | |
P478 | volume | 9 |
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