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James M. Ford, MD, FASCO
Professor of Medicine
Pediatrics and Genetics
Director, Stanford Program for Clinical Cancer Genetics
Stanford University School of Medicine
Goal: To improve risk assessment in high-risk women and families.
Impact: Dr. Ford has performed multigene testing on several thousand DNA samples from women with a personal or family history of breast cancer to better understand the extent of the risk posed by specific gene mutations or variations. His findings could help identify which women would benefit from expanded genetic testing and improve interpretation of the results.
What’s next: He and his team will conduct several studies to further their understanding of breast cancer genetic risk in the overall population and develop screening tools for women at high genetic risk.
Current tests for the genetic risk of developing breast cancer are uninformative for most patients, even those with family histories strongly suggestive of cancer susceptibility. While numerous other gene mutations or variations beyond the BRCA genes have been identified, they have been added to multi-gene risk panels without a clear understanding of the risk they pose in causing breast cancer. Dr. Ford is conducting studies to determine the impact these mutations and variations have on disease risk in families with a high incidence of breast cancer so that gene panel tests can better guide preventive strategies.
Full Research Summary
Research area: Improving the understanding of breast cancer genetic risk in the overall population and develop screening tools for women at high genetic risk.
Impact: Currently available tests for the genetic risk of developing breast cancer provide limited information for most patients, even those with a family history strongly suggestive of cancer susceptibility. This is because many gene mutations and variations beyond the BRCA genes have become part of multi-gene risk panels even though the risk they pose in causing breast cancer is poorly understood. Dr. Ford is studying the risk of these ambiguous gene alterations in families with a high incidence of breast cancer so that gene panel tests can better guide preventive strategies.
Current investigation: He and his team are investigating potentially pathogenic germline variants they discovered in the DNA of women with a personal or family history of breast cancer, including ATM, CDH1, p53, PALB2, CHEK2, and Lynch syndrome genes.
What he’s learned so far: Dr. Ford has found that in a small group of women, epigenetic changes –chemical alterations of DNA – of cancer genes in their germline can impact cancer risk without evidence of mutations.
What’s next: The team will use new technology to analyze cell-free DNA (liquid biopsies) in patients who harbor mutations in both moderate- and high-penetrance breast cancer genes as a cancer screening tool. They also plan to examine tumor DNA sequencing panels for ways to better identify changes that effect familial, hereditary cancer risk.
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.