Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA336003 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Rare germline variations in familial melanoma
| PRJNA335673 | ENA
Project description:Mounting evidence suggests that copy number variations (CNVs) can contribute to cancer susceptibility. The main goal of this study was to evaluate the role of germline CNVs in melanoma predisposition in high-risk melanoma families. We used genome-wide tiling comparative genomic hybridization and SNP arrays to characterize CNVs in 335 individuals (240 melanoma cases) from American melanoma-prone families (22 with germline CDKN2A or CDK4 mutations). We found that the global burden of overall CNVs (or deletions or duplications separately) was not significantly associated with case-control or CDKN2A/CDK4 mutation status after accounting for the familial dependence. However, we identified several rare CNVs that either involved known melanoma genes (e.g. PARP1, CDKN2A) or co-segregated with melanoma (duplication on 10q23.23, 3p12.2 and deletions on 8q424.3, 2q22.1) in families without mutations in known melanoma high-risk genes. Some of these CNVs were correlated with expression changes in disrupted genes based on RNASeq data from a subset of melanoma cases included in the CNV study. These results suggest that rare co-segregating CNVs may influence melanoma susceptibility in some melanoma-prone families and genes found in our study warrant further evaluation in future genetic analyses of melanoma.
2016-12-01 | GSE85010 | GEO
Project description:Germline copy number variations and breast cancer risk
| PRJNA674608 | ENA
Project description:Genome-wide survey of large rare copy number variations in Alzheimer’s disease among Caribbean Hispanics
| PRJNA148797 | ENA
Project description:The association between endometriosis, genomic copy number variant polymorphisms and differential gene expression is still unclear. The rationale of this study was to identify regions of copy number change in familial endometriosis, which could contain genes that may be involved with the susceptibility and progression of this disease.
2016-08-17 | GSE85701 | GEO
Project description:<p>Mounting evidence suggests that copy number variations (CNVs) can contribute to cancer susceptibility. The main goal of this study was to evaluate the role of germline CNVs in melanoma predisposition in high-risk melanoma families. We used genome-wide tiling comparative genomic hybridization and SNP arrays to characterize CNVs in 113 individuals (105 melanoma cases) from American melanoma-prone families. We found that the global burden of overall CNVs (or deletions or duplications separately) was not significantly associated with case-control or CDKN2A/CDK4 mutation status after accounting for the familial dependence. However, we identified several rare CNVs that either involved known melanoma genes (e.g. PARP1, CDKN2A) or co-segregated with melanoma (duplication on 10q23.23, 3p12.2 and deletions on 8q424.3, 2q22.1) in families without mutations in known melanoma high-risk genes. Some of these CNVs were correlated with expression changes in disrupted genes based on RNASeq data from a subset of melanoma cases included in the CNV study. These results suggest that rare co-segregating CNVs may influence melanoma susceptibility in some melanoma-prone families and genes found in our study warrant further evaluation in future genetic analyses of melanoma.</p>
| phs001177 | dbGaP
Project description:Gene copy number variations associated with patient survival in uveal melanoma
| PRJNA159145 | ENA
Project description:While familial and sporadic forms of myeloproliferative neoplasms (MPNs) have long been recognized, emerging evidence implicates germline variations, in predisposing individuals to JAK2 V617F-positive myeloproliferative neoplasms (MPN). Understanding the role of genetic variants, such as the JAK2 germline mutations, in MPN susceptibility, along with the contribution to disease pathogenesis, is crucial for elucidating the underlying mechanisms driving MPN development and progression. To study the biology of germline JAK2 R1063H mutation in more detail, we edited the endogenous Jak2 locus by CRISPR/Cas9 technology. We performed expression gene profiling of young (3 months) and old (12 months) HSC (defined as Lin-, Sca1+/ckithigh, CD150high/CD48low) and LK cells (defined as Lin-, Sca1-/ckithigh).
2025-08-22 | E-MTAB-14686 | biostudies-arrayexpress