Title |
RAD51Cdeletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families
|
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Published in |
Breast Cancer Research, December 2013
|
DOI | 10.1186/bcr3589 |
Pubmed ID | |
Authors |
Gioia Schnurbein, Jan Hauke, Barbara Wappenschmidt, Nana Weber-Lassalle, Stefanie Engert, Heide Hellebrand, Lutz Garbes, Alexandra Becker, Guido Neidhardt, Kerstin Rhiem, Alfons Meindl, Rita K Schmutzler, Eric Hahnen |
Abstract |
RAD51C is an integral part of the DNA double-strand repair through homologous recombination, and monoallelic mutations were found in ~1.3% of BRCA1/2-negative breast cancer (BC) and/or ovarian cancer (OC) families. Several studies confirmed the occurrence of RAD51C mutations predominantly in BC and/or OC families, although with varying frequencies, clearly establishing RAD51C as a cancer-predisposing gene. There is ongoing debate whether pathogenic RAD51C alterations increase the relative risk for BC in addition to that for OC, which was estimated to be 5.88 (95% confidence interval = 2.91 to 11.88; P = 7.65 × 10-7). |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 4% |
Unknown | 23 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 33% |
Researcher | 6 | 25% |
Student > Master | 3 | 13% |
Student > Doctoral Student | 2 | 8% |
Other | 1 | 4% |
Other | 2 | 8% |
Unknown | 2 | 8% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 12 | 50% |
Biochemistry, Genetics and Molecular Biology | 4 | 17% |
Medicine and Dentistry | 3 | 13% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
Chemistry | 1 | 4% |
Other | 1 | 4% |
Unknown | 2 | 8% |