Title |
BRCA1 Circos: a visualisation resource for functional analysis of missense variants
|
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Published in |
Journal of Medical Genetics, February 2015
|
DOI | 10.1136/jmedgenet-2014-102766 |
Pubmed ID | |
Authors |
Ankita Jhuraney, Aneliya Velkova, Randall C Johnson, Bailey Kessing, Renato S Carvalho, Phillip Whiley, Amanda B Spurdle, Maaike P G Vreeswijk, Sandrine M Caputo, Gael A Millot, Ana Vega, Nicolas Coquelle, Alvaro Galli, Diana Eccles, Marinus J Blok, Tuya Pal, Rob B van der Luijt, Marta Santamariña Pena, Susan L Neuhausen, Talia Donenberg, Eva Machackova, Simon Thomas, Maxime Vallée, Fergus J Couch, Sean V Tavtigian, J N Mark Glover, Marcelo A Carvalho, Lawrence C Brody, Shyam K Sharan, Alvaro N Monteiro |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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India | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Italy | 1 | 1% |
Unknown | 75 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 11 | 14% |
Student > Ph. D. Student | 9 | 12% |
Student > Doctoral Student | 9 | 12% |
Other | 8 | 11% |
Researcher | 7 | 9% |
Other | 16 | 21% |
Unknown | 16 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 19 | 25% |
Agricultural and Biological Sciences | 16 | 21% |
Medicine and Dentistry | 13 | 17% |
Computer Science | 2 | 3% |
Nursing and Health Professions | 1 | 1% |
Other | 6 | 8% |
Unknown | 19 | 25% |