Title |
Hereditary breast cancer: ever more pieces to the polygenic puzzle
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Published in |
Hereditary Cancer in Clinical Practice, September 2013
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DOI | 10.1186/1897-4287-11-12 |
Pubmed ID | |
Authors |
Natalia Bogdanova, Sonja Helbig, Thilo Dörk |
Abstract |
Several susceptibility genes differentially impact on the lifetime risk for breast cancer. Technological advances over the past years have enabled the detection of genetic risk factors through high-throughput screening of large breast cancer case-control series. High- to intermediate penetrance alleles have now been identified in more than 20 genes involved in DNA damage signalling and repair, and more than 70 low-penetrance loci have been discovered through recent genome-wide association studies. In addition to classical germ-line mutation and single-nucleotide polymorphism, copy number variation and somatic mosaicism have been proposed as potential predisposing mechanisms. Many of the identified loci also appear to influence breast tumour characteristics such as estrogen receptor status. In this review, we briefly summarize present knowledge about breast cancer susceptibility genes and discuss their implications for risk prediction and clinical practice. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 25% |
India | 1 | 25% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 75% |
Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Japan | 1 | <1% |
Portugal | 1 | <1% |
Russia | 1 | <1% |
Unknown | 104 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 16 | 15% |
Student > Master | 15 | 14% |
Student > Bachelor | 13 | 12% |
Student > Ph. D. Student | 10 | 9% |
Professor > Associate Professor | 7 | 7% |
Other | 16 | 15% |
Unknown | 30 | 28% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 25 | 23% |
Medicine and Dentistry | 23 | 21% |
Biochemistry, Genetics and Molecular Biology | 17 | 16% |
Social Sciences | 2 | 2% |
Mathematics | 1 | <1% |
Other | 7 | 7% |
Unknown | 32 | 30% |