Recurrent inactivating RASA2 mutations in melanoma
- Submitting institution
-
University of the Highlands and Islands
- Unit of assessment
- 3 - Allied Health Professions, Dentistry, Nursing and Pharmacy
- Output identifier
- 2498007
- Type
- D - Journal article
- DOI
-
10.1038/ng.3427
- Title of journal
- Nature Genetics
- Article number
- -
- First page
- 1408
- Volume
- 47
- Issue
- 12
- ISSN
- 1061-4036
- Open access status
- Out of scope for open access requirements
- Month of publication
- October
- Year of publication
- 2015
- URL
-
-
- Supplementary information
-
-
- Request cross-referral to
- 5 - Biological Sciences
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
27
- Research group(s)
-
-
- Citation count
- 50
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- This manuscript was completed in the early days of using next generation sequencing to identify novel drivers of cutaneous melanoma, which had not been identified using previous methods, including candidate gene screening, mRNA microarrays, and SNP chip arrays for chromosomal aberrations. This manuscript brought together whole exome and whole genome sequencing data from a number of sources, including our sequenced and arrayed cohort of cell lines. Dr Pritchard was involved in the sequencing, arraying and analyses of our cohort of cell lines; one of which (C082) was a carrier of a RASA2 mutation (p.Ser400Phe) and supplying these data – specifically with a focus on RASA2 – for the manuscript. Further, Dr Pritchard performed copy number investigation in publicly available data, in order to show focal homozygous deletions and loss of heterozygosity on RASA2, indicating a specific loss of this gene in certain melanomas. Dr Pritchard was involved with writing sections pertinent to these data and editing the manuscript as a whole; and assisting in the response to reviewers.
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -