CANCER GENETICS

PROGRAM LEADERS

	Sanford D. Markowitz, MD, PhD Professor, Medicine-Hematology/Oncology sxm10@case.edu
	Robert C. Elston, PhD Professor, Epidemiology & Biostatistics robert.elston@cwru.edu

Program Themes | Program Information | Program Members

PROGRAM THEMES

• To elucidate the role of tumor suppressor genes and oncogenes in the genesis of human cancers
• To identify cancer susceptibility genes active in the human population, and to develop molecular assays for detection of cancer risk, and molecular assays for early cancer diagnosis
• To develop new methods for the discovery of cancer causing genes

PROGRAM INFORMATION

The focus of the Cancer Genetics Program is on elucidating genetic alterations that play a direct etiologic role in the development of human cancers, either as germline variants that determine the susceptibility of different individuals to cancer development, or as targets of somatic genetic alterations that play a direct role in cancer development and progression. We are committed to the development of new methods for finding such genes, to the identification of these genes themselves, and to the translation of such discoveries back to the patient in the form of new molecular tests for cancer diagnosis, determination of individual risk of cancer development, and ultimately as targets of new cancer therapeutics. This program has particularly focused on the genetics of human gastrointestinal cancers and human genitourinary cancers, as these two groups account for two of the top four causes of cancer deaths in adult Americans.

The Cancer Genetics Program has a clear focus on gastrointestinal and genitourinary malignancies. The program is strongly centered on studies of human malignancies. To preview key discoveries from the program, our group of investigators is responsible for: a) the discovery of the first identified human prostate cancer susceptibility gene in RNAseL, b) the discovery of a novel linkage of human colon cancer susceptibility to chromosome 9q, c) the discovery of three new human colon cancer suppressor genes-two of which are novel targets of aberrant methylation and one a novel effector of the TGF-beta pathway, and d) the development and prosecution through human clinical trials of a new and powerful assay for genetic diagnosis of individuals who are carriers of genes for hereditary colon cancer, and of one new molecular assay for early detection of human colon cancer by testing of fecal DNA. Where the program has studied model systems, the cancer focus has still been at the fore, as for example using the mouse to discover the first ever gene defect that can produce testicular cancer. Where the program has invested in developing genetic methods, these investments have yielded major advances such as the sequencing of the mouse and human genomes and the development of novel mouse strains for mapping disease genes that the program has rapidly moved to directly apply to our studies of cancer genetics. Lastly, the investments and developmental efforts of the program have all had a clear cancer focus as shown by our successful development of new NIH-funded studies of familial Barrett's esophagus and by our recruitment of new junior faculty to study the genetics of human gastric cancers.

PROGRAM MEMBERS