Medical researchers at FAU recommend risk gene testing for women under 60
In a joint study, medical researchers from Universitätsklinikum Erlangen, the Mayo Clinic in Rochester (USA) and the University of Southampton (UK) have proven that a specific mutation in the risk genes BRCA1 and BRCA2 plays an important role in the development of an aggressive type of breast cancer. As the incidence of these genetic mutations was particularly high in patients under 60 the researchers recommend tests for genetic mutations for this age group. In this study, more than 1800 patients suffering from triple-negative breast cancer (TNBC) were examined.
1824 patients suffering from TNBC were examined in the study. TNBC is not controlled by the usual, known receptors (oestrogen, progesterone or HER2 receptors). Between 12 and 15 percent of all breast cancer patients suffer from TNBC. ‘What we are dealing with here is a type of cancer which is not characterised by a special biomarker but by the fact that three important markers are missing,’ says Peter Andreas Fasching, Professor of Translational Gynaecology and Obstetrics at Universitätsklinikum Erlangen.
BRCA1 and BRCA2 established as important risk genes
It is known that TNBC, like other types of breast cancer, can be caused by hereditary risk genes. Professor Fasching explains: ‘We have investigated 17 risk genes, including BRCA1 and BRCA2. We know that these two might trigger TNBC. What we did not known until now though is how often they trigger TNBC.’ The results are clear: in their study the researchers established that almost 15 percent of all TNBC patients had a hereditary mutation in one of the 17 known breast cancer risk genes and approximately 70 percent of those hereditary mutations occurred in BRCA1 and BRCA2.
Patients under 60 particularly affected
This means that Professor Fasching and his research team have proven in their study that BRCA1 and BRCA2 play an important role in the development of TNBC. The incidence of such mutations is very high in TNBC patients under 60 in particular. Therefore, the medical researchers suggest mutation analysis for BRCA1 and BRCA2 for this age group, irrespective of the usual criteria such as a family history of breast or ovarian cancer or the age of disease onset of affected family members.
International research project
Professor Fasching’s working group at the Department of Obstetrics and Gynaecology at Universitätsklinikum Erlangen (head: Prof. Dr. Matthias W. Beckmann) conducts research into the genetic causes of the development and progress of cancerous diseases. The new study is the result of an international research project led by Prof. Fasching, Prof. Fergus Couch (Mayo Clinic Rochester, Minnesota, USA) and Prof. Diana Eccles (University of Southampton, UK). The Institute of Human Genetics at Universitätsklinikum Erlangen (head: Prof. Dr. Reis), the SUCCESS study group (head: Prof. Dr. Wolfgang Janni) and the GENICA study group (head: Prof. Dr. Hiltrud Brauch) were also involved in the study.
The study results have been published in the renowned American Journal of Clinical Oncology with the title ‘Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer’.
Prof. Dr. Peter A. Fasching
Phone: +49 9131 8533508