I'm currently doing my PhD in oncogenetics. The aim of the project is to achieve knowledge of the genetic aetiology and pathways in tumorogenesis for familial colorectal cancer, as well as to characterise the Danish cohort of (selected) high-risk colorectal cancer families, and to clarify the contribution of already known, or suspected, high risk cancer genes, in these families.
We have data from around 250 Amsterdam-positive, MMR- (mismatch repair-) mutation negative families, and a large number of families with sporadic cases of early-onset colorectal cancer.
By analyzing a large cancer gene panel and/or performing whole exome sequencing in carefully selected families/persons, we hope to identify the genetic background for colorectal cancer for a greater proportion of the families, and hopefully also identify new causal, germline mutations.

 

The project is expected to end in November 2018.