Molecular Genetics of Breast Cancer

Research Group Molecular Genetics of Breast Cancer

Prof. Dr. Ute Hamann

First two principal components reflecting genetic variation among the GENICA study population and 14 populations from the 1000 Genomes Project (Int J Cancer 133, 362-372, 2013).

Breast cancer is the most common cancer in women. About one in eight women will develop breast cancer during her life time. Susceptibility to breast cancer is influenced by rare coding variants in susceptibility genes, notably BRCA1 and BRCA2, and a large number of about 170 common variants across the genome. In contrast to BRCA1/2 variants, which confer high lifetime risks of breast cancer, those conferred by common variants are low. However, common variants combined result in high risks.

Our research aims at the identification of genetic and non-genetic factors that are associated with overall and subtype-specific breast cancer risk in the general population and genetic modifiers of breast and ovarian cancer risks in BRCA1/2 mutation carriers. As the frequencies of variants differ between populations, we also investigate their role in Asians and Latinos/Hispanics. Another focus of our research is the search for new biomarkers for breast cancer prognosis and prediction of endocrine treatment outcome. In addition, we aim to identify DNA methylation changes in the peripheral blood of breast cancer patients. Two large, genome-wide methylation studies of breast cancer patients are conducted. One aims at identifying variations that act as predictors of BRCA1-associated, non-BRCA1/2-associated familial and sporadic breast cancer and as prognostic factors. The other study aims at examining the utility of DNA methylation variations as a biomarker of triple-negative BC for a non-invasive prediction of this aggressive breast cancer subtype and prognosis of its outcome. We will also analyze the combined effects of genetic and epigenetic risk factor data. Another research objective is to identify novel breast cancer susceptibility genes in familial BRCA1/2-negative Pakistani and Colombian breast cancer patients by next generation sequencing. Our studies will provide further insight into the mechanisms involved in breast carcinogenesis. Novel genetic and epigenetic alterations may be useful for diagnosis, and improve targeted early detection and prevention of breast cancer.


Prof. Dr. Ute Hamann
Molecular Genetics of Breast Cancer (B072)
Deutsches Krebsforschungszentrum
Im Neuenheimer Feld 280
69120 Heidelberg
Tel: +49 6221 42 2344

Selected Publications

  • Torres D, …., Hamann U (2017). Prevalence and penetrance of BRCA1 and BRCA2 germline mutations in Colombian breast cancer patients. Sci. Rep. 7:4713.
  • Kabisch M, …., Hamann U (2015). Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER negative breast cancer. Carcinogenesis 6:256-271.
  • Bermejo JL, …., Hamann U (2013). Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases. Int. J. Cancer 133:362-372.
  • Torres D, …., Hamann U (2007). High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res. Treat. 103(2):225-232.
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