Dept. of Obstetrics and Gynecology
Helsinki University Central Hospital
P.O. BOX 700
Tel. +358 9 471 71750
Fax +358 9 471 71751
The research group on hereditary breast cancer susceptibility is investigating the genetic background of breast cancer as well as breast and ovarian cancer by identifying genes and genetic variation for cancer development and progression (SNPs – genes – pathways). We use genome-wide molecular genetic, functional and cancer biological analyses combined with large scale computational, bioinformatic and biostatistical analyses of cancer risk or patient survival in subgroups of breast carcinoma.
The group has made many contributions in identification and characterization of breast cancer susceptibility genes, their mutations and molecular epidemiology, cancer risks, cancer family phenotypes, breast tumour phenotypes and outcome as well as functional effects. A key finding was the identification of the CHEK2 gene whose mutations cause a moderately increased risk of breast cancer. We have further identified and characterized founder alleles in other moderate penetrance genes in the Finnish population both for breast cancer and for ovarian cancer, with clinical potential for diagnostics and cancer surveillance in the families. We have also contributed to identification of several novel low penetrance breast or ovarian cancer loci. Determining cancer phenotypes and progression-related changes in the genetic and biological subgroups of breast carcinoma has also been our major interest. In addition to these studies, a major focus is in determining how inherited genetic variation affects the survival in breast cancer and responsiveness to specific chemotherapy drugs.
The group is multidisciplinary with basic and clinical researchers in molecular and clinical genetics, cancer biology, pathology and oncology. The group has wide national and international scientific collaboration and is a member of the Breast Cancer Association Consortium (BCAC, Dr. Douglas Easton, Cambridge, UK), Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA, Dr. Georgia Chenevix-Trench, Brisbane, Australia) and Nordic Breast Cancer Array Consortium (NBAC, Dr. Åke Borg, Lund, Sweden). We work on ovarian cancer susceptibility with Drs. Ralf Butzow and Arto Leminen (HUCH), and participate in the Ovarian Cancer Association Consortium. The group works closely together also with Dr. Jianjun Liu (Genome Institute of Singapore GIS) and Dr. Diana Eccles (University of Southampton) on genome-wide survival analyses as well as with Drs. Sampsa Hautaniemi (Computational Systems Biology Laboratory, Biomedicum Helsinki) and Dario Greco (Folkhälsan Research Center, Biomedicum Helsinki) on computational and bioinformatic analyses, and with Dr. Jiri Bartek (Danish Cancer Society, Copenhagen, Denmark) on tumour biological and functional studies. The group is also affiliated with Institute of Molecular Medicine Finland FIMM and collaborates with Drs. Olli Kallioniemi and Sergey Kuznetsov on functional approaches to breast tumour progression in specific genetic subgroups.
4 April, 2013
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