Titles and Affiliations
Professor of Medicine, Genetics, and Pediatrics
Director, Stanford Cancer Genetics Clinic and the Cancer Genomics Program
Research area
Improving breast cancer genetic risk assessment and screening.
Impact
Genetic tests for breast cancer risk can be immensely helpful for families carrying mutations in known breast cancer susceptibility genes, like the BRCA1 and BCRCA2 genes. However, for patients whose inherited risks are not explained by well-known gene mutations, currently available tests provide limited information, do not allow for nuanced genetic counseling on exact levels of risk, and may result in an over-application of prophylactic interventions—such as preventative mastectomies. Researchers have identified approximately 300 potential genetic alterations (known as single nucleotide polymorphisms, SNPs) associated with breast cancer. These are present at varying frequencies in the population and could be used to further refine the percent lifetime risk. Dr. Ford and his team will analyze these SNPs, and how well they coordinate with known risk genes, to potentially improve risk assessments. They are also working to develop new early detection blood-based tools for breast cancer.
Progress Thus Far
Dr. Ford and his team are expanding the ability to accurately predict genetic breast cancer risk by incorporating Polygenic Risk Scores (PRS) into the analysis of multigene cancer panels. A PRS is an individualized risk assessment calculated by looking at over 300 SNPs. Dr. Ford and his team are applying PRS to samples from carriers of breast cancer susceptibility genes from their biobank, as well as collecting prospective samples from new patients undergoing genetic testing. Using new diagnostic techniques developed at Stanford, they are analyzing cell-free DNA in blood— “liquid biopsies”— as a cancer screening tool to detect cancers at an early and curable stage. Dr. Ford and his team continue to advance our understanding of breast cancer genetic risk in the overall population and develop new screening tools for individual women at high genetic risk. They have collected hundreds of germline and circulating DNA samples from BRCA carriers both with and without cancer.
What’s next
In the upcoming year, Dr. Ford and his team plan to extend both these projects and begin in-depth analyses of the results. The team has now completed patient accrual for the PRS study. Next, they will complete genomic sequencing, PRS and risk calculations, patient feedback and clinical follow-up. For the screening and early detection project, Dr. Ford and his team aim to further optimize the assay to assess other potential biomarkers for early breast cancer detection.
Biography
Dr. Ford is a medical oncologist and geneticist at Stanford, devoted to studying the genetic basis of breast cancer development, treatment and prevention. He graduated from Yale where he received his MD in 1989. He trained clinically in Medicine and Oncology at Stanford followed by a research fellowship in Biological Sciences and has been on the faculty at Stanford since 1998, currently as an Associate Professor of Medicine (Oncology), Pediatrics (Medical Genetics) and Genetics, and Director, Stanford Program for Clinical Cancer Genetics and Genomics.
Dr. Ford’s goals are to understand the role of genetic changes in cancer genes in the risk and development of common cancers. He discovered that the p53 and BRCA1 tumor suppressor genes regulate DNA repair. He is using techniques for high-throughput genomic analyses of cancer to identify molecular signatures for targeted therapies, and whole-genome next-generation DNA sequencing to identify novel germline cancer susceptibility genes.
Dr. Ford’s honors and awards include the Etta S. Chidsey Award in Cancer Research from Yale, NIH K08 Clinical Investigator Award, Second Annual Gerald B. Grindey Memorial Young Investigator Award – AACR, Sidney Kimmel Foundation for Cancer Research Scholar Award, Doris Duke Foundation Clinical Scientist Award in Cancer Etiology and Pathogenesis, Burroughs-Wellcome Fund New Investigator Award in Toxicology, and the V Foundation Translational Research Award. Dr. Ford is an Editor for the journal PLoS Genetics, is on the Scientific Review Committee for the V Foundation for Cancer Research, and former Council President of the California Breast Cancer Research Program.