Title |
Recurrent CYP2C19 deletion allele is associated with triple-negative breast cancer
|
---|---|
Published in |
BMC Cancer, December 2014
|
DOI | 10.1186/1471-2407-14-902 |
Pubmed ID | |
Authors |
Anna Tervasmäki, Robert Winqvist, Arja Jukkola-Vuorinen, Katri Pylkäs |
Abstract |
Using a genome-wide approach, we have previously observed an increase in the frequency of rare copy number variants (CNVs) in familial and early-onset breast cancer cases when compared to controls. Moreover, the biological networks of the CNV disrupted genes differed between the two groups. Here, six of the previously observed CNVs were selected for further investigation. Four of these were singletons and disturbed the following genes: DCLRE1C, CASP3, DAB2IP and ITGA9, encoding proteins that are part of the TP53 and β-estradiol centered network. The two others were recurrent alleles and disrupted CDH19 and CYP2C19 genes. Of these, CDH19 encodes a cadherin functioning as a cell-cell adhesion receptor and CYP2C19 a CYP450 enzyme with a major function in estrogen catabolism. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Pakistan | 1 | 4% |
Unknown | 23 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 25% |
Student > Master | 4 | 17% |
Professor > Associate Professor | 2 | 8% |
Student > Doctoral Student | 1 | 4% |
Student > Bachelor | 1 | 4% |
Other | 4 | 17% |
Unknown | 6 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 25% |
Agricultural and Biological Sciences | 5 | 21% |
Biochemistry, Genetics and Molecular Biology | 4 | 17% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 8% |
Unknown | 7 | 29% |