Family history in colorectal cancer: Observations in twins have indicated that the heredity in colorectal cancer (CRC) is 35%. Only a minority of cases appear to have a monogenic aetiology. Thus, the family history is an important source of information about hereditary risk. In collaboration with Department of Clinical Epidemiology, the predictive value of colorectal cancer in first degree relatives, in families without a monogenic risk is investigated.

As the many new health-related possibilities generated by the recent breakthroughs in genetic knowledge and in genetic techniques only have a clinical impact if the patients understand and appreciate these, knowledge about the patient perspective on clinical genetics is important. The department takes part in quantitative and qualitative research in relation to genetic counselling to improve the patient perspective and involvement.
HNPCC phenotype and genotype: We have contributed to the description of the cancer spectrum in families with HNPCC and we are currently using NGS to find the explanation in families with a history of HNPCC-related cancers and immunohistochemical findings compatible with a mutation in one of the MMR genes. This work is done in collaboration with BGI, ShenZhen, China and Department of Molecular Medicine (MOMA), Aarhus University Hospital.
The department contributes to Danish registries (the Polyposis Register, the HNPCC Register, the HBOC register, the vHL register and others) and the department participates in national and international collaborations concerning research in the phenotype and the genotype in hereditary cancer predisposition.

Contacts:

Lone Sunde, MD, PhD, Consultant, Assoc. Prof.
Tel: +45 7845 5560, Mobile: +45 4014 4364, E-mail: lonsunde@rm.dk

Uffe Birk Jensen, MD, PhD, Professor, Consultant
Tel:+45 7845 5504, Mobile: +45 3038 7154, E-mail: uffejens@rm.dk