Hereditary breast cancer

Project leader: Prof. Dr. P. Devilee

Research in my group is aimed at the improvement of genetic diagnosis and risk assessment for breast and colorectal cancer, to enable personalized treatment and prevention of these cancers, and, ultimately, to improve cost-efficiency of health care in this area. The focus is on the identification and functional characterization of cancer genes and their genetic variants.

The Tumour Genetics group has collected DNA material from over 2000 breast and colorectal cancer patients, 1200 susceptibility gene mutation carriers, and 1200 healthy controls.


We have defined the mutation spectra of BRCA1, BRCA2, MLH1, and MSH2 for the Dutch population, which was essential for introducing DNA testing, and have associated these mutations to specific cancer phenotypes in families. We linked a gene-defect in the tricarboxylic acid cycle to an inherited cancer syndrome.

Position in international context

Longstanding international collaborations are maintained with the groups of prof. D. Easton (Univ Cambridge, UK), prof. I. Tomlinson (London, UK), prof. M. Stratton (Sanger Centre, UK), prof. L. Aaltonen (Univ Helsinki, Finland), prof. J. Benitez (CNIO, Madrid, Spain), prof. D. Goldgar (Univ Utah, USA).


My group will continue to use cutting edge genetic technologies to characterize genetic variation in cancer patients and their tumor tissues, to improve our understanding of the genetic basis of cancer. Important developments include the arrival of whole-genome re-sequencing and huge, worldwide collaborative networks to perform association studies with greater statistical power.