Coverage of the Genetic Background of Breast Cancer in the Polish Population
© The Author(s) 2006
Received: 15 October 2005
Accepted: 15 November 2005
Published: 15 November 2006
It is a known fact that cancer risk is influenced by both environmental and genetic factors. Parameters such as the kind and site of the tumour and family history depend on the proportion between both and the population determines to a great extent the characteristics of the genetic background. Here we focus on breast cancer in the Polish population.
Despite complex population dynamics in the last centuries, the Poles seem to be surprisingly homogeneous in their genetics. A sequence-based screening of BRCA1 positive patients showed just 9 polymorphisms of BRCA1, where 91% of individuals shared just 3 common founder mutations . The result is consistent with other Slavic countries [2–4]. In contrast, a similar screening in neighbouring Germany revealed 77 distinct BRCA1 mutations, 18 of them shared by 68% of BRCA1 positive patients .
Highly penetrating mutations, such as those of BRCA1, are mostly detected in conspicuous family aggregations via genetic linkage studies. Therefore, they may be detected with the help of just a few families even in heterogeneous populations. However, the probability of finding a new highly penetrating gene for the Polish population seems rather low; mutations of BRCA1 and BRCA2 already cover ~70% of cases of strong familial aggregations of breast and ovarian cancers . The advantage of genetically homogeneous populations relies instead on the increased power of finding medium- and low-risk markers via large association studies that would otherwise be blurred in more complex populations.
Those values should drop for cases with onset at older ages as the cumulative exposure to external carcinogenic agents increases. Nevertheless, in familial aggregations of breast and ovarian cancer that percentage is expected to be higher since just BRCA1 and BRCA2 account already for almost 70% of cases. Both analyses have still to be performed.
The Polish population appears to be a useful group for detecting low-risk markers of cancer. It is large (~40 m) and homogeneous enough to reach the statistical power necessary to detect small but still significant differences in cancer risk. Our actual knowledge of disease-associated genetic factors present in breast cancer cases is ~70% for familial aggregations and ~80% for early onset consecutive cases. Thanks to the parallel growth of the network country-wide for sample and data exchange and the genetic variants under analysis, we expect to approach 100% in the near future.
The Polish Hereditary Cancer Consortium are (in alphabetical order)
International Hereditary Cancer Center. Połabska 4, 70115 Szczecin, Poland.
Department of Obstetrics and Perinatology, Pomeranian Medical University, Szczecin, Poland.
Department of Pathology, Pomeranian Medical University, Szczecin, Poland.
Inter-University Unit of Molecular Biology, University of Szczecin and Pomeranian Medical University, Szczecin, Poland.
Medical University of Silesia, Katowice, Poland.
Centre for Research on Women's Health, Toronto, Canada.
Clinic of Urology, Pomeranian Academy of Medicine, Szczecin, Poland.
Regional Oncology Hospital, Białystok, Poland.
Regional Oncology Hospital, Olsztyn, Poland.
Poznan Medical University, Poland.
Department of Clinical Genetics, Bydgoszcz Medical University, Poland.
Regional Oncology Center, Kraków, Poland.
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, Hunter Medical Research Institute, NSW, Australia.
Department of Urology, Pomeranian Medical University, Szczecin, Poland.
Prophylactic and Epidemiology Center, Poznań, Poland.
Regional Oncology Hospital, Lublin, Poland.
Regional Oncology Hospital, Bielsko Biała, Poland.
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