Nancy Uhrhammer, PhD, HDR

Laboratory “OncoGénAuvergne”, Centre Jean Perrin, Clermont-Ferrand, France

After obtaining her PhD (UCLA School of Medicine, 1995) on the subject of mapping the gene responsible for Ataxia-Telangiectasia, Dr. Uhrhammer took a postdoctoral position at Yale to continue the subject and to investigate the effects of knocking out ATM on the radiosensitivity of different cells.

Continuing in the theme of genes involved in the response to DNA double-strand break damage, Ishe obtained her HDR (University of Auvergne, 2004) on the twin subjects of the roles of ATM and BRCA1 in DSB repair, and on the molecular genetic diagnosis of mutations in the BRCA genes in families at risk of breast and ovarian cancer. During this time, she became the responsible scientist for the newly created molecular genetic diagnostic laboratory at the Centre Jean Perrin. This laboratory is associated with the cancer genetics consultation at the Centre, where they have progressively expanded our diagnostic testing to currently include 39 different cancer predisposition genes.

Their extensive pedigree database has allowed the research arm of the laboratory to participate in many different collaborations and research projects. The majority of these projects concern breast-ovarian cancer risk, triple-negative breast cancer factors and treatment responses, digestive cancers involving the MMR genes, polyposis genes, and CDH1. Additional projects are centered on DNA repair-related themes, notably the involvement of rare mutations in hereditary cancer risk, factors that modify the penetrance of mutations in the BRCA genes, and the utility of PARP-inhibitors for the treatment of cancers with constitutional or somatic mutations in repair genes.

Research interests: Genetic basis for hereditary cancer risk, notably for breast, ovarian and digestive cancers.