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Genomicsena-DATASET-CRUK-CI-16-05-2016-12:25:56:672-139 - samples
Targeted sequencing of 173 genes in 2433 primary breast tumours. Data includes 2433 tumour samples, 523 adjacent normal (breast) samples and 127 blood samples. Libraries were prepared with Illumina's Nextera custom enrichment kit targetting all the exons of the most frequently mutated breast cance...
EGAD00001002115 | EGA
GenomicsMETABRIC: Data from Pereira et al (2016), The somatic mutation profiles of 2433 breast cancers refine their genomic and transcriptomic landscapes. Nat Comms 7.
The genomic landscape of breast cancer is complex, and inter- and intra-tumour heterogeneity are important challenges in treating the disease. In this study, we sequence 173 genes in 2433 primary breast tumours that have copy number aberration (CNA), gene expression, and long-term clinical follow-u...
EGAS00001001753 | EGA
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
GenomicsThe clonal and mutational evolution spectrum of primary triple negative breast cancers
Primary triple negative breast cancers (TNBC) represent approximately 16% of all breast cancers and are a tumour type defined by exclusion,for which comprehensive landscapes of somatic mutation have not been determined. Here we show in 104 early TNBC cases, that at the time of diagnosis these cancer...
EGAS00001000132 | EGA
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
GenomicsWhole genome sequencing - samples
Mutational landscapes of primary triple negative breast cancers - WGS
EGAD00001000115 | EGA
GenomicsRNA seq - samples
Mutational landscapes of primary triple negative breast cancers - RNA seq
EGAD00001000132 | EGA
GenomicsEGAD00010000148
tumour samples using Affymetrix Genome-Wide SNP6.0 arrays
EGAD00010000148 | EGA
GenomicsExome sequencing - samples
Mutational landscapes of primary triple negative breast cancers - Exomes
EGAD00001000113 | EGA
GenomicsOCAC OncoArray data
Germline genotype data on 56,479 ovarian cancer cases and controls
EGAD00010001192 | EGA
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