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TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
Genomics20181113_EGA_MELA_Naevus - samples
Aligned, merged and deduplicated BAM files from HiSeq whole genome sequencing of 28 samples: matched tumour-normal pairs from 14 melanocytic nevi cases
EGAD00001004474 | EGA
Genomics20191008_EGA_MELA_Acral - samples
Illumina platform sequencing of whole genome libraries prepared from paired tumour/normal samples from 87 cases of melanoma Acral subtype. 63 cases also have RNASeq sequencing from the tumour sample.
EGAD00001005500 | EGA
Genomics20190219_EGA_MelanomaOnTreatment - samples
Illumina platform sequencing data for matched tumour-normal DNA samples from 77 melanoma patients participating in a study investigating response to immunotherapy. Selected cases also have RNA sequencing of the tumour.
EGAD00001004869 | EGA
Genomics20191008_EGA_MELA_Uveal - samples
Illumina platform sequencing of whole genome libraries prepared from paired tumour/normal samples from 103 cases of melanoma Uveal subtype
EGAD00001005454 | EGA
Genomics20191204_EGA_MELA_Rizos - samples
79 RNAseq samples from 56 patients with melanoma who have undergone immune checkpoint blockade immunotherapy.
EGAD00001005738 | EGA
GenomicsMELA-AU_WGS_20170516 - samples
Aligned, merged and deduplicated BAM files from HiSeq whole genome sequencing of 366 samples: matched tumour-normal pairs from 183 melanoma cases comprising 48 primary melanomas, 15 cell lines, and 120 metastases. Sequencing was performed on the Illumina HiSeq 2000 and Xten platforms at Australian a...
EGAD00001003388 | EGA
GenomicsMELA-AU_WXS_20170516 - samples
Aligned, merged and deduplicated BAM files from HiSeq whole exome sequencing of 106 samples: matched tumour-normal pairs from 53 melanoma patients.
EGAD00001003357 | EGA
Genomics20180910_EGA_MELA_Mucosal - samples
Aligned, merged and deduplicated BAM files from HiSeq whole genome sequencing of 134 samples: matched tumour-normal pairs from 67 mucosal melanoma cases
EGAD00001004409 | EGA
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