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BRCA1 Circos: a visualisation resource for functional analysis of missense variants
A. Jhuraney, A. Velkova, RC. Johnson, B. Kessing, RS. Carvalho, P. Whiley, AB. Spurdle, MP. Vreeswijk, SM. Caputo, GA. Millot, A. Vega, N. Coquelle, A. Galli, D. Eccles, MJ. Blok, T. Pal, RB. van der Luijt, M. Santamariña Pena, SL. Neuhausen, T....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
NLK
ProQuest Central
od 1994-01-01 do Před 6 měsíci
Health & Medicine (ProQuest)
od 1994-01-01 do Před 6 měsíci
- MeSH
- databáze genetické MeSH
- datové soubory jako téma MeSH
- genetická predispozice k nemoci MeSH
- genetické testování MeSH
- internet * MeSH
- lidé MeSH
- missense mutace * MeSH
- mutační analýza DNA MeSH
- nádory prsu genetika MeSH
- nádory vaječníků genetika MeSH
- počítačová grafika * MeSH
- protein BRCA1 genetika MeSH
- software * MeSH
- systémy řízení databází MeSH
- výpočetní biologie metody MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
BACKGROUND: Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1 variants have been identified in the population and can be classified as pathogenic, non-pathogenic or as variants of unknown significance (VUS). Many VUS are rare missense variants leading to single amino acid changes. Their impact on protein function cannot be directly inferred from sequence information, precluding assessment of their pathogenicity. Thus, functional assays are critical to assess the impact of these VUS on protein activity. BRCA1 is a multifunctional protein and different assays have been used to assess the impact of variants on different biochemical activities and biological processes. METHODS AND RESULTS: To facilitate VUS analysis, we have developed a visualisation resource that compiles and displays functional data on all documented BRCA1 missense variants. BRCA1 Circos is a web-based visualisation tool based on the freely available Circos software package. The BRCA1 Circos web tool (http://research.nhgri.nih.gov/bic/circos/) aggregates data from all published BRCA1 missense variants for functional studies, harmonises their results and presents various functionalities to search and interpret individual-level functional information for each BRCA1 missense variant. CONCLUSIONS: This research visualisation tool will serve as a quick one-stop publically available reference for all the BRCA1 missense variants that have been functionally assessed. It will facilitate meta-analysis of functional data and improve assessment of pathogenicity of VUS.
Cancer Epidemiology Program H Lee Moffitt Cancer Center and Research Institute Tampa Florida USA
Center for Cancer Research National Cancer Institute Frederick Maryland USA
Department of Biochemistry University of Alberta Alberta Canada
Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic
Department of Clinical Genetics Maastricht University Medical Centre Maastricht the Netherlands
Department of Medical Genetics University Medical Center Utrecht Utrecht the Netherlands
Frederick National Laboratory for Cancer Research National Cancer Institute Fredrick Maryland USA
Fundación Pública Galega de Medicina Xenómica Santiago Spain
Genetics and Population Health Division QIMR BNE Brisbane Queensland Australia
Genome Technology Branch National Human Genome Research Institute Bethesda Maryland USA
Huntsman Cancer Institute University of Utah School of Medicine Salt Lake City Utah USA
Institut Curie Université Pierre et Marie Curie Paris France
Instituto di Fisiologia Clinica Consiglio Nazionale delle Ricerche Pisa Italy
International Agency for Research on Cancer Lyon France
Salisbury District Hospital Salisbury Wiltshire UK
Service de Génétique Institut Curie Hôpital René Huguenin Paris France
Citace poskytuje Crossref.org
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- $a Jhuraney, Ankita $u Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA University of South Florida Cancer Biology PhD Program, Tampa, Florida, USA.
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