Title |
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer
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Published in |
BMC Cancer, June 2014
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DOI | 10.1186/1471-2407-14-470 |
Pubmed ID | |
Authors |
Hongxiu Wen, Yeong C Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A Fleissner, Dina Becirovic, Jiangtao Luo, Bradley Downs, Simon Sherman, Kenneth H Cowan, Henry T Lynch, San Ming Wang |
Abstract |
Genetic predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic predispositions remain unknown. All newly identified predispositions occur rarely in disease population, and the unknown genetic predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic predisposition for each family. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 38 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 8 | 21% |
Student > Bachelor | 7 | 18% |
Student > Doctoral Student | 5 | 13% |
Professor > Associate Professor | 3 | 8% |
Student > Master | 3 | 8% |
Other | 6 | 16% |
Unknown | 6 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 11 | 29% |
Agricultural and Biological Sciences | 9 | 24% |
Medicine and Dentistry | 9 | 24% |
Computer Science | 1 | 3% |
Chemistry | 1 | 3% |
Other | 0 | 0% |
Unknown | 7 | 18% |