Sort   by:  
 Page size 
UnknownAge- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
Not available
S-EPMC5019754 | biostudies-literature
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
GenomicsEGAS00001000017-sc-20110505 - samples
Familial Melanoma Sequencing
EGAD00001000016 | EGA
GenomicsFamilial Melanoma Sequencing
In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.
EGAS00001000017 | 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
GenomicsOCAC OncoArray data
Germline genotype data on 56,479 ovarian cancer cases and controls
EGAD00010001192 | EGA
GenomicsThe Ovarian Cancer Association Consortium OncoArray genome-wide association study
A custom Illumina genotyping array, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-rela...
EGAS00001002305 | EGA
GenomicsThe Ovarian Cancer Association Consortium Data Access Committee
Data Access Committee EGAC00001000616
EGAC00001000616 | EGA
Sort   by:  
 Page size