Cancer Institute A national cancer institute
designated cancer center

Major Areas of Research

Etiology - Cancer Genetics

Dr James Ford and colleagues have provided services to over 200 families annually in the Stanford Cancer Genetics Clinic, including risk assessment, genetic counseling, and interventions for members of cancer families. This group has led the first and largest study to date assessing the combined contribution of breast MRI scans with ductal lavage for risk assessment in women carrying BRCA1 and BRCA2 mutations, including quality of life parameters focused on women's tolerance of intensive screening procedures and preferences for managing cancer risk (Cancer 100:479, 2004; Cancer Epidemiol Biomarkers Prev 14:1082, 2005; Health Expectations 8:221, 2005). Drs. Ford and West are studying risk assessment models predictive for BRCA1 and BRCA2 mutation incidence in Asian vs. Caucasian women at Stanford and at clinics in Hong Kong, Seattle, Vancouver, British Columbia, Hawaii, and San Francisco.

Dr Esther John is involved in a large number of collaborations using the resources of the Family Registry for Breast Cancer a part of the National Cancer Institute’s Breast Cancer Family Registry, investigating associations with a wide range of risk factors, genetic variants, and gene-environment interactions (Cancer Epidemiol Biomarkers Prev 14:350, 2005; Int J Cancer 118:197, 2006; Cancer Epidemiol Biomarkers Prev 2006, in press; Cancer Epidemiol Biomarkers Prev 2006, in press), including a study of the genetics of breast density.

Dr Russ Altman, in the Department of Genetics, is the Principal Investigator of a U-01 entitled "PharmGKB: Catalyzing Pharmacogenetics Research" which supports the creation and utilization of a PharmGKB. PharmGKB is charged with collecting, organizing, disseminating, and providing analysis tools for public pharmacogenomics data. It holds genotype variation data for genes relevant to drug metabolism and drug action. It also contains information on phenotype variation related to drug response. It manages information about pathways of drug action and metabolism, and curates the published literature on pharmacogenomics. Its mission extends internationally to all sources of data relating variation in human genetics to variation in the response to drugs. Dr Altman is also director of the Helix Group at Stanford where current application projects include the study of structure-function relationships in macromolecular structure, understanding the structure and folding of RNA molecules, and analyzing the relationship of genotype and phenotype, particularly with respect to the response to drugs.

Dr Richard Olshen, conducts research in statistical applications for medicine and biology; and has constructed tree-structured algorithms for classification, regression, survival analysis, and clustering. The classification algorithms have been successfully applied in computer-aided diagnosis and prognosis and for studies of human complex human disease by association with single nucleotide polymorphisms and other predictors. The clustering algorithms have been applied to lossy data compression in digital radiography. He has also developed modeling and sample reuse methods have been developed for longitudinal data, concerning gait analysis; renal physiology; cholesterol; and molecular genetics.

Dr. Sara Tobin, at the Stanford Center for Biomedical Ethics, provides information to the medical community and the public about hereditary cancer risk. Along with Ann Boughton, she has produced two multimedia, interactive courses about advances in molecular genetics. The first, aimed at health providers is entitled "The New Genetics: Courseware for Physicians" and carries continuing education credits for physicians through Stanford University. The second course, entitled "The New Genetics: Medicine and the New Genome", has been used by medical residents, graduate students, undergraduates, and biotechnology trainees. A website has also been developed for the general population about assessment of hereditary cancer risk for breast and ovarian cancer. In addition, working with Dr. James Ford at the Stanford Clinical Cancer Genetics Center, an informational web site regarding heredity nonpolyposis colorectal cancer was developed for primary care physicians.

Drs Whittemore, West, John, and Oakley-Girvan obtained pedigree data, blood and archived tissue from members of 98 families containing three or more confirmed cases of prostate cancer. These families were typed for 437 autosomal markers and the data have been analyzed for linkage. Although no single chromosomal region met the genome-wide criteria for statistically significant excess allele sharing, the strongest signals on chromosome 19p and 5q have been replicated independently. Dr Whittemore and colleagues have recently received RO1 funding to investigate these regions further. Objectives are to: 1) narrow the regions by tripling the number of markers and perform linkage analysis to exclude subregions with low lod scores, using statistical methods that accommodate both individual-specific and family-specific covariates that may account for genetic heterogeneity across families; 2a) rank the known genes and transcripts of unknown genes in the (narrowed) regions with respect to their potential involvement in prostate cancer, and 2b) identify polymorphisms in the more promising genes; 3a) investigate associations between prostate cancer risk and the variant alleles in the identified polymorphisms by genotyping 750 African-American and 750 Caucasian case-control pairs in a case-control study nested within the Hawaii/Los Angeles multiethnic cohort; and 3b) when warranted, investigate the functional significance of these variants.

The research of Dr Pamela Horn-Ross includes the effects of isothiocyanates (found in cruciferous vegetables), genetics, and breast cancer risk; and expansion of previous work on the effects of alcohol on breast cancer risk to include the role of genetic variation in ADH3, GSTs, and the steroid hormone pathway.

This document was last modified: Monday, 27-Jun-2011 13:29:24 PDT

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