Factors and Mechanisms in Hereditary Breast Cancer Predisposition

Robert Winqvist, Ph.D.

Project leader
Prof. Robert Winqvist, Ph.D.

Laboratory of Cancer Genetics and Tumour Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu and Faculty of Medicine, University of Oulu

Mailing address
Laboratory of Cancer Genetics, P.O. Box 5000, FIN-90014 University of Oulu, Finland

Street address
Aapistie 5A, Biocenter Oulu, 3rd floor, 90220 Oulu, Finland

Tel. +358-8-315 3228;
Fax +358-8-315 6354;
e-mail: robert.winqvist (at) oulu.fi

Focus area spearhead project web page:

About the project

Breast cancer is the most common malignancy among women. Accumulation of various genetic and epigenetic lesions plays a major role both in initial development and in progression of the disease. Constitutional heterozygous mutations in high-penetrance susceptibility genes such as BRCA1 and BRCA2 account for approximately 5–10% of breast cancer cases, but recently more commonly occurring mutations in various moderate- and low-penetrance susceptibility genes have also been uncovered. Thus, a much greater proportion of breast cancer than was previously anticipated is associated with hereditary risk factors. Unfortunately, however, the mechanistic details of how dysfunctional hereditary factors act to promote malignancy development has remained largely obscure. In addition, a considerable fraction of the components involved in breast cancer predisposition are still unknown. Consequently, besides studying more closely the effects of susceptibility gene mutations already discovered in our previous studies, in our current research we are also trying to uncover additional, at present unknown predisposing factors and to learn more about their molecular interactions and biological effects as well as the outcome of their functional inabilities. The functional consequences of observed genomic lesions will also be assessed by using multiple disease modelling regimes. Ultimately, our investigations should contribute to increased knowledge of key molecular interactions, pathways and biological networks as well as the impact and influence of various susceptibility gene lesions on breast cancer risk, and in general, on the biology of tumour development as well as on their effects on disease behaviour. The project is part of the Finnish Centre of Excellence Programme funded by the Academy of Finland (Centre of Excellence Grant 2012 - 2017, 251314)

Project details

  1. Background and Significance
  2. Recent Progress
  3. Future Goals
  4. Publications 2016-
  5. Research Group Members
  6. National and International Activities

Last updated: 15.10.2018