James M. Ford, MD, FASCO
Professor of Medicine, Genetics, and Pediatrics
Director, Stanford Cancer Genetics Clinic and the Cancer Genomics Program
Stanford University Medical Center
Improving breast cancer genetic risk assessments and screening.
Genetic tests for breast cancer risk can be immensely helpful for families carrying genes where risk is clearly understood, like mutations in the BRCA1 and BCRCA2 genes. But for patients whose inherited risks are not explained by well-known breast cancer susceptibility genes, 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, which 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 tools for breast cancer and identify new risk genes through DNA sequencing of tumors.
Dr. Ford and his team are renowned for establishing that 10-15 percent of women with a personal or family history of breast cancer have mutations in genes other than BRCA1/2, including ATM, CDH1, p53, PALB2, CHEK2, and Lynch syndrome genes; expanding the pool of genes that can be integrated into risk assessments. Through this work, the team assembled a large biobank, containing thousands of samples from patients with and without a family history of breast cancer, to help perform future studies.
Dr. Ford’s team will sequence biobanked samples from patients known to have non-BRCA mutations, look for the presence of the 300 SNPs associated with breast cancer risk, to determine if information about the 300 SNPs can create a more personalized risk assessment. In separate projects, the team is also working to develop a cancer screening tool in high-risk individuals—analyzing cell-free DNA in their blood to try and detect tumors earlier. They also plan to examine tumor DNA, searching for undiscovered inherited breast cancer susceptibility genes.
“If not for BCRF we would not have made practice changing advances in how to approach genetic risk assessment for breast cancer.” – Dr. Ford
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.
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