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New advances in the genetics of melanoma: how can it contribute to personalized medicine?
Published on Jan 23, 20123860 Views
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Chapter list
New advances in the genetics of melanoma : how can it contribute to personalized medicine?00:00
Melanoma00:06
Genetic Epidemiology of Melanoma01:16
Melanoma Risk Factors02:23
Genetic Epidemiology of Melanoma : What is the Context?04:02
Rare mutations confering a high risk of melanoma04:49
Risk of melanoma associated with CDKN2A mutations05:50
Factors modulating penetrance of CDKN2A mutations06:47
Effect of MC1R & Host Phenotypes on melanoma risk in CDKN2A mutation carriers across GenoMEL (1)07:43
Effect of MC1R & Host Phenotypes on melanoma risk in CDKN2A mutation carriers across GenoMEL (2)09:06
Many Low-risk Genes underlying Common Forms of Melanoma09:56
Recent advances ...10:40
Genome-wide association study11:22
Genome-Wide Association Study for Melanoma (1539 cases / 3917 controls)11:30
Chromosome 912:32
Chromosome 9 Region13:03
How can genotype imputations contribute to the identification of causal variants in GWAS?13:48
Identification of causal variants in 16q24 region14:47
Identification of causal variants using Genotype15:55
Analysis of Imputed Data : Single SNPs analysis (1)16:12
Analysis of Imputed Data : Single SNPs analysis (2)16:34
Analysis of Imputed Data : Multiple SNPs analysis17:01
Multiple logistic Regression of MC1R variants and SNPs17:41
Genotype Imputations & Causal Variants18:07
From Single SNP analysis to Multi-Marker Analysis18:22
From single marker to pathway analysis18:34
Pathway-based approach: Overrepresentation analysis18:49
Results19:46
Gene Ontology Classes20:22
Second GenoMEL GWAS : Phases 1 + 220:54
GenoMEL Phase 1 + Phase 221:06
GenoMEL Phase 1 + Phase 2 : New hits21:10
A SUMOylation-defective MITF germline mutation21:41
Are there other types of genetic variants between low and high risk genes?23:11
Association of Melanoma and Renal Cell Carcinoma23:41
Characteristics of Melanoma & Renal Cell Carcinoma24:40
Microphthalmia-associated transcription factor (MITF)25:10
MITF variant sequenced in 62 patients with Mela + RCC25:50
Mi-318K co-segregates with melanoma in 3 families26:32
Mi-E318K impairs sumoylation26:47
Functional analysis of MITF27:09
In conclusion27:53
Genes underlying Intermediate Phenotypes28:17
GWAS of Melanoma associated phenotypes28:31
Comparative Genomic Approach using animal models29:00
Comparison of Human (36.3) and Pig (10) using NARCISSE30:23
Integration of Omics approaches30:49
How can these results be used for personalized medicine?31:33
Acknowledgments34:57