Title |
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
|
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Published in |
Journal of Medical Genetics, August 2012
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DOI | 10.1136/jmedgenet-2012-101037 |
Pubmed ID | |
Authors |
Amanda B Spurdle, Phillip J Whiley, Bryony Thompson, Bingjian Feng, Sue Healey, Melissa A Brown, Christopher Pettigrew, kConFab, Christi J Van Asperen, Margreet G E M Ausems, Anna A Kattentidt-Mouravieva, Ans M W van den Ouweland, Dutch Belgium UV Consortium, Annika Lindblom, Maritta H Pigg, Rita K Schmutzler, Christoph Engel, Alfons Meindl, German Consortium of Hereditary Breast and Ovarian Cancer, Sandrine Caputo, Olga M Sinilnikova, Rosette Lidereau, French COVAR group collaborators, Fergus J Couch, Lucia Guidugli, Thomas van Overeem Hansen, Mads Thomassen, Diana M Eccles, Kathy Tucker, Javier Benitez, Susan M Domchek, Amanda E Toland, Elizabeth J Van Rensburg, Barbara Wappenschmidt, Åke Borg, Maaike P G Vreeswijk, David E Goldgar |
Abstract |
Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of individuals carrying these variants. We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 3% |
Unknown | 76 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 19 | 24% |
Student > Ph. D. Student | 11 | 14% |
Student > Master | 10 | 13% |
Other | 6 | 8% |
Student > Bachelor | 5 | 6% |
Other | 13 | 17% |
Unknown | 14 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 22 | 28% |
Medicine and Dentistry | 19 | 24% |
Biochemistry, Genetics and Molecular Biology | 16 | 21% |
Unspecified | 1 | 1% |
Physics and Astronomy | 1 | 1% |
Other | 4 | 5% |
Unknown | 15 | 19% |