Description: Study Description from EGA: "Melanoma is the fourth most common cancer in Australia and the leading cause of cancer death in young adults. The Australian Melanoma Genome Project (AMGP) is analysing whole genomes from melanomas. We include the results of whole genome sequencing (WGS) for a number of datasets that include cutaneous, acral and mucosal melanoma subtypes. "

Subject of Study

Homo sapiens

Subject(s)

Conjunctival Neoplasms

OncoTree Cancer Type(s)

Acral Melanoma
Conjunctival Melanoma
Melanoma
Cutaneous Melanoma
Uveal Melanoma

Access via EGA
10 datasets comprising 1308 samples from melanoma patients
Accession #: EGAS00001001552
Access Restrictions: Application Required
Access Instructions: The European Genome-Phenome Archive (EGA) provides a service for the permanent archiving and distribution of personally identifiable genetic and phenotypic data resulting from biomedical research projects. Data at EGA was collected from individuals whose consent agreements authorise data release only for specific research use to bona fide researchers. Strict protocols govern how information is managed, stored and distributed by the EGA project.

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Studies associated with the dataset are listed and linked by accession numbers at the bottom of the page.
Associated Publications: Mundra P, Dhomen N, Rodrigues M, et al. Ultraviolet radiation drives mutations in a subset of mucosal melanomas. Nature Communications. 2021; 12:259.

Hayward NK, Wilmott JS, Waddell N, et al. Whole-genome landscapes of major melanoma subtypes. Nature. 2017;545(7653):175-180.

Liu E, Martinez-Fundichely A, Diaz B, et al. Identification of cancer drivers at CTCF insulators in 1,962 whole genomes. Cell Systems. 2019; 8(5):446-455.e8.

Newell F, Kong Y, Wilmott JS, et al. Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. Nat Commun. 2019;10(1):3163. Published 2019 Jul 18.

Lee JH, Shklovskaya E, Lim SY, et al. Transcriptional downregulation of MHC class I and melanoma de- differentiation in resistance to PD-1 inhibition. Nat Commun. 2020;11(1):1897. Published 2020 Apr 20.

Johansson PA, Brooks K, Newell F, et al. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours. Nat Commun. 2020;11(1):2408. Published 2020 May 15.

Newell F, Wilmott JS, Johansson PA, et al. Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity. Nat Commun. 2020;11(1):5259. Published 2020 Oct 16.

Garg M, Couturier DL, Nsengimana J, et al. Tumour gene expression signature in primary melanoma predicts long-term outcomes. Nat Commun. 2021;12(1):1137. Published 2021 Feb 18.
Data Type: Genomic
Equipment Used: Illumina HiSeq 2000
High throughput gene sequencing system
Dataset Format(s): BAM
Data Tool(s): RNA Seq

WXS

WGS
Dataset Size: 98.1 TB

Data Catalog Record Updated: 2021-07-28

Whole genome sequencing of primary and metastatic Melanoma cases in an Australian cohort