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GenomicsNational Cancer Institute Genome-Wide Association Study of Renal Cell Carcinoma

The National Cancer Institute (NCI) genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic variants associated with RCC risk. The GWAS includes 1,453 RCC cases and 3,531 controls of European background from 4 studies (3 cohort, 1 case-con...

phs000351.v1.p1 | 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
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
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
UnknownPolymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the Ovarian Cancer Association Consortium.
Not available
S-EPMC3103497 | biostudies-literature
UnknownVariation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer.
Not available
S-EPMC4082406 | biostudies-literature
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