Genomes and Genes
Affiliation: German Cancer Research Center
- Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancerMichael Wirtenberger
Division of Molecular Genetic Epidemiology, German Cancer Research Centre DKFZ and Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
Carcinogenesis 27:593-8. 2006..Due to the pivotal role of AKAP13 in the Rho GTPases signalling network, this variant might affect the susceptibility to other cancers as well...
- Aurora kinases A and B and familial breast cancer riskSandrine Tchatchou
Division of Molecular Genetic Epidemiology, German Cancer Research Centre DKFZ, Heidelberg, Germany
Cancer Lett 247:266-72. 2007..45, 95% CI=1.05-2.0, P=0.02). Due to the impact of aurora kinases in the loss of chromosomal integrity during carcinogenesis, this variant may also influence the therapy outcome in breast cancer...
- A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal womenSandrine Tchatchou
Helmholtz University Group Molecular Epidemiology, German Cancer Research Center DKFZ, Heidelberg, Germany
Carcinogenesis 30:59-64. 2009..The analysis of large study populations in multicentre collaboration will be needed to verify the association and answer questions regarding the possible impact of this variant on therapeutic and clinical outcome...
- Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activitySandrine Tchatchou
Helmholtz University Group Molecular Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 581, 69120 Heidelberg, Germany
Hum Mutat 31:60-6. 2010..The data suggest that DMBT1 polymorphisms in the 5'-region are associated with increased breast cancer risk. In accordance with previous results, these data link decreased DMBT1 levels to breast cancer risk...
- Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancerMichael Wirtenberger
Division of Molecular Genetic Epidemiology, Helmholtz University Group Molecular Epidemiology, German Cancer Research Center DKFZ Heidelberg, Germany
Carcinogenesis 27:2201-8. 2006..Owing to their impact on estrogen signaling, these polymorphisms might also influence adjuvant anti-estrogen therapy, using agents such as tamoxifen and raloxifen, and outcome of breast cancer patients...
- Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 geneMichelle G Rath
Division Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg, Germany
Breast Cancer Res Treat 133:725-34. 2012..0011). According to these results, the in frame deletion c.9203_9328del126 is a rare mutation strongly associated with familial BC. In summary, our investigations indicate that this BRCA2 deletion is pathogenic...
- Copy number variation in patients with cervical artery dissectionCaspar Grond-Ginsbach
Department of Neurology, University of Heidelberg, Heidelberg, Germany
Eur J Hum Genet 20:1295-9. 2012..068). We conclude that rare genetic variants may contribute to the pathogenesis of CeAD, in particular in patients with a microscopic connective tissue phenotype...