CHEK2 mutations as predisposition alleles for inherited hematopoietic malignancies

CHEK 2 mutations are among the most common inherited genetic mutations seen in the City of Chicago, particular within its large Polish population. The CHEK2 mutation is present in a variety of hematologic malignancies; it is also seen in many solid tumors and known to indicate a predisposition to solid tumors. In addition, CHEK2 acts directly upstream of BRCA 1 and BRCA 2, two genes which are known to confer cancer risk. Further, genes which are routinely linked to solid tumor risk are now recognized to be important for bone marrow function and blood cell production. All these facts seem to suggest that CHEK2 mutations likely predispose people to develop blood cancers as well.

Dr. Akpan plans to concentrate on CHEK2 and its relation to a variety of hematological malignancies. She will focus on a particular germline mutation in the CHEK2 region which she hypotheses may be jointly responsible for the inherited risk of various blood cancers. Dr. Akpan plans to test this theory both by studying the genetic changes of an already assembled cohort of families with the CHEK2 mutation and by developing a mouse model containing the germ line mutations she has identified. Her hope is to identify the effects of the mutation on both the development of blood cells and the development of blood cancers with the goal of providing better recommendations and treatments to families with inherited CHEK 2 mutations.