Title |
Expanding the genetic basis of copy number variation in familial breast cancer
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Published in |
Hereditary Cancer in Clinical Practice, May 2014
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DOI | 10.1186/1897-4287-12-15 |
Pubmed ID | |
Authors |
Amy L Masson, Bente A Talseth-Palmer, Tiffany-Jane Evans, Desma M Grice, Garry N Hannan, Rodney J Scott |
Abstract |
Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades a number of genes have been identified that are unequivocally associated with breast cancer (BC) risk but there remain a significant proportion of families that cannot be accounted for by these genes. Copy number variants (CNVs) are a form of genetic variation yet to be fully explored for their contribution to fBC. CNVs exert their effects by either being associated with whole or partial gene deletions or duplications and by interrupting epigenetic patterning thereby contributing to disease development. CNV analysis can also be used to identify new genes and loci which may be associated with disease risk. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 3 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 3% |
Uruguay | 1 | 3% |
Unknown | 30 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 7 | 22% |
Researcher | 4 | 13% |
Student > Doctoral Student | 3 | 9% |
Student > Bachelor | 3 | 9% |
Student > Ph. D. Student | 3 | 9% |
Other | 6 | 19% |
Unknown | 6 | 19% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 12 | 38% |
Medicine and Dentistry | 8 | 25% |
Biochemistry, Genetics and Molecular Biology | 5 | 16% |
Nursing and Health Professions | 1 | 3% |
Unknown | 6 | 19% |