Melanoma_brain_metastases

This is a whole exome study of brain metastases in melanoma. We are studying the genomic evolution of primary cutaneous melanoma to brain met in patients with brain-only metastatic disease. We are also looking at the genomic heterogeneity in patients with temporally, anatomically and regionally separated brian metastases.

Type: Cancer Genomics
Archiver: European Genome-Phenome Archive (EGA)

5 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001005981	These are the raw sequencing files for the 50 brain tumour, 3 extracranial tumour and 34 matched normals for the patients in the discovery cohort.	Illumina HiSeq 4000	87
EGAD00001005982	These are the variant calls for the 50 brain tumour samples in the discovery cohort.	Illumina HiSeq 4000	50
EGAD00001005983	These are the Sequenza copy number calls for the 30 brain tumour samples within the discovery cohort.	Illumina HiSeq 4000	30
EGAD00001005984	Raw sequencing files for the 18 (brain tumour-only) samples within the external validation cohort.	Illumina HiSeq 4000	18
EGAD00001005985	These are the raw sequencing files for the orthogonal validation brain tumour samples in the discovery cohort.	Illumina HiSeq 4000	31

Publications	Citations
The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence. Rabbie R, Ferguson P, Wong K, Couturier DL, Moran U, Turner C, Emanuel P, Haas K, Saunus JM, Davidson MR, Lakhani SR, Shivalingam B, Long GV, Parkinson C, Osman I, Scolyer RA, Corrie P, Adams DJ. Br J Cancer 124: 2021 156-160	16