John D. Carpten, Ph.D.

Investigator
Cancer Genetics Branch

Head
Cancer Genomics Section

B.Sc. Lane College, 1988
Ph.D. Ohio State University, 1994

(301) 435-5626 (301) 435-4688 jdc@nhgri.nih.gov		Building 50, Room 5351 50 South Drive, MSC 8000 Bethesda, MD 20892-8000
Selected Publications

Our laboratory focuses on the identification of genes involved in the etiology of cancer, using positional cloning and other molecular techniques as well as Human Genome Sequence data. Our goal is to develop a deeper understanding of cancer, with the hope that this knowledge will lead to a higher quality of life for those affected by the disease. Our work centers on searching for genes that predispose to hereditary prostate cancer. We are part of the Hereditary Prostate Cancer 1 (HPC1) gene identification effort, begun in 1996. We recently reported the identification of germline mutations in the Rnase-L gene in families showing linkage to HPC1. Although this gene may only account for a small portion of hereditary prostate cancer cases, it will provide a better understanding of the complex nature of prostate cancer development and progression.

Prostate cancer poses a further challenge. African-American men have a much higher incidence rate of prostate cancer, and are more likely to die from the disease, than men from other ethnic groups. My work on prostate cancer led to the creation of the African-American Hereditary Prostate Cancer Study Network. This multi-center collaboration aims to identify a large number of African-American families with men who have a high risk of developing prostate cancer.

Our laboratory also contributes to the chromosome 1 mapping and sequencing effort. We mapped a 20-Mb interval of the chromosome in collaboration with researchers at the Sanger Centre in Cambridge, UK. In addition, we are involved in two chromosome 1 gene projects. We mapped the gene for camptodactyly-arthropathy-coxa vara-pericarditis syndrome, an inherited joint disorder, to human chromosome 1 in collaboration with researchers at Case Western Reserve University in Cleveland, Ohio, and we are working on a project to identify the gene responsible for hyperparathyroidism-jaw tumor syndrome, an inherited disorder characterized by parathyroid adenomas and tumors of the maxilla and mandible, which maps to chromosome 1.