“In 2016, the LFSA redoubled efforts to extend our reach. To this end, we increased our support and funding of innovative research projects. Our successful 2016 conference fostered the expansion of our network of medical professionals, researchers and families world-wide. The newly created LFSA Medical Advisory Board will further expand our reach by increasing the collaboration between the LFSA and the LiFE Research Consortium, leading to unprecedented opportunities to improve the lives of those with LFS.”
– Robert Lufkin, D.O. Medical Oncologist, LFS Association Scientiﬁc & Medical Advisor
LFSA Medical Advisory Board
Dr. Joseph Fraumeni
Dr. Joseph Fraumeni, Jr., along with Dr. Fred Li, first recognized the familial predisposition to certain cancers later referred to as Li-Fraumeni syndrome in the 1960s.
Born and raised in the Boston area, Dr. Fraumeni graduated from Harvard College with an A.B., Duke University with an M.D., and Harvard School of Public Health with an M.Sc. in epidemiology. He then completed his medical residency at both Johns Hopkins Hospital and Memorial Sloan-Kettering Cancer Center. In 1962, he joined the National Cancer Institute (NCI) as a commissioned officer in the US Public Health Service where he founded the Division of Cancer Epidemiology and Genetics (DCEG).
After serving a remarkable 50 years at NCI, Dr. Fraumeni stepped down as the director of DCEG, but he continues to contribute to the National Institutes of Health as Scientist Emeritus in the Office of the Director.
Dr. Garber is the Director of the Center for Cancer Genetics and Prevention at Dana-Farber Cancer Institute and a Professor of Medicine at Harvard Medical School. She conducts research in clinical cancer genetics, with a special focus in the genetics of breast cancer. She has played a major role in the development of national guidelines in cancer genetics. Dr. Garber is also a leader in research into the characteristics and treatment of triple negative or basal-like breast cancer, the most common form in women with BRCA1 mutations. Her translational research focuses on the evaluation of novel agents targeting DNA repair defects in breast cancer, including PARP inhibitors for treatment and prevention of breast cancer and other BRCA-associated cancers.
Dr. Garber is a past president and current member of the Board of the American Association for Cancer Research (AACR), the largest organization of cancer researchers in the world. She serves on the National Cancer Advisory Board of the National Cancer Institute and was elected into the National Academy of Medicine in 2013. Dr. Garber also serves as the Chair of the Breast Cancer Research Foundation (BCRF) Scientific Advisory Board.
University of Texas MD Anderson Cancer Center and Graduate School of Biomedical Sciences
Dr. Louise Strong received her medical degree from University of Texas Medical Branch. Dr. Strong was one of the original researchers in 1990 to discover that the p53 gene mutation was responsible for Li-Fraumeni syndrome. She has continued to be a leader in pediatric and cancer genetics, to include the late effects of childhood cancer. Dr. Strong has been a recipient of numerous recognition awards and is currently the lead investigator of the Li-Fraumeni Syndrome Study Group at MD Anderson. She has served as president of the American Association of Cancer Research as well as a six-year term on the National Cancer Advisory Board.
Professor, Departments of Pediatrics and Medical Biophysics, University of Toronto
Dr. David Malkin received his medical degree at the University of Toronto and completed his residency in pediatrics and pediatric hematology/oncology at the Hospital for Sick Children in Toronto. He completed his post-doctoral research training in molecular genetics at Harvard University, where he contributed to the discovery that the p53 gene mutation was responsible for Li-Fraumeni syndrome, along with Dr. Strong. Dr. Malkin has continued his research on genetic predisposition to cancer as related to childhood cancers. His team at the University of Toronto has focused on Li-Fraumeni syndrome, studying which type of cancers LFS children will develop at what ages, and the development of early detection screening guidelines, coined “The Toronto Protocol.”
Dr. Malkin also serves at co-chair for LFSA – Canada.
The LFS Association awarded Dr. Malkin the prestigious “Pioneer Award” for his discovery of the cause of LFS during the 2020 Virtual International LFS Association Symposium.
Dr. Sharon Savage received her medical degree at the University Of Vermont College Of Medicine, completed her residency at Pediatrics at Children’s National Medical Center, and her fellowship in pediatric hematology/oncology at the National Cancer Institute (NCI) Pediatric Oncology Branch and Johns Hopkins University. Dr. Savage joined the Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, NCI, in 2006, and was promoted to Branch Chief in 2013. Her research has focused on telomere molecular epidemiology, the cancer etiology of osteosarcoma, and Li-Fraumeni syndrome. Dr. Savage has led a clinical, genetic, and epidemiologic study of LFS to best define its characteristics and develop effective cancer screenings for those with the germline mutation of p53.
Dr. Joshua Schiffman
Professor of Pediatrics at the University of Utah
Adjunct Professor in the Department of Oncological Sciences
Education Director, Program in Personalized Health Care, University of Utah
Dr. Joshua Schiffman received his medical degree from Brown University School of Medicine, and completed his pediatric residency, pediatric chief residency and pediatric hematology/oncology fellowship at Stanford University. He has served as an investigator at the Huntsman Cancer Institute since 2008, and as a faculty member at the University of Utah since 2009. Dr. Schiffman’s work in the High Risk Pediatric Cancer Clinic has contributed to the demonstration that early cancer surveillance in families with Li-Fraumeni syndrome can significantly improve overall survival. Dr. Schiffman is currently leading research at the Huntsman Cancer Institute in early cancer detection methods and the potential of “fixing” broken p53 to suppress tumor growth.
Dr. Phuong Mai
Dr. Mai graduated from the University Houston in 1993, and received her M.D. degree from the University of Texas Medical Branch in Galveston in 1997. She then completed her residency in Internal Medicine at Tulane University Medical Center and her medical oncology fellowship at the University of Texas Health Science Center at San Antonio. During the fellowship, she simultaneously earned a Master of Science degree in Clinical Investigation. After fellowship, Dr. Mai completed a post-doctoral training program in Clinical Cancer Genetics at the City of Hope National Medical Center in Duarte, CA. She then joined the Clinical Genetics Branch of the NCI Division of Cancer Epidemiology and Genetics in 2006 where she was involved in a number of epidemiologic and clinical research studies aimed at better understanding familial cancer syndromes, particularly cancer risks and early detection and intervention in Hereditary Breast Ovarian Cancer Syndrome and Li-Fraumeni Syndrome. Dr. Mai has recently joined the staff at Magee-Womens Hospital, University of Pittsburgh Medical Center, as the Medical Director of the Cancer Genetics Program.
Christian Kratz, MD, is full professor in Pediatrics and Director of the Department of Pediatric Hematology and Oncology, Hannover Medical School. After obtaining his medical degree in 1996 from the University of Düsseldorf, Germany, he completed his training to become a pediatrician and pediatric hematologist/oncologist in Düsseldorf, San Francisco (UCSF), and Freiburg. From 2009-2012 he worked as an investigator at the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (Director: J. Fraumeni). His research focuses on the genetic causes of childhood cancer. He chairs the German Fanconi Registry, the Genetic Cancer Predisposition Working Group of the German Society of Pediatric Hematology and Oncology and an International Genetic Variation Task Force. Together with Stefan Pfister he has launched a Registry for patients with Li-Fraumeni syndrome and other cancer predisposition syndromes. One of his most important discoveries was the identification of KRAS germline mutations in patients with Noonan syndrome.
Dr. Kratz also chairs the German chapter of the LFS Association.
The LFS Association is very proud to note that all of the above esteemed colleagues either assisted in the initial creation of the international LFS research consortium in 2010, entitled Li-Fraumeni Exploration Research Consortium, and fondly dubbed, “LiFE,” and/or are currently active in the consortium. Collaboration in LiFE’s pursuits is stronger than ever with the top LFS researchers in the world actively seeking to improve the lives of those living with LFS.
Dr. Robert Lufkin, DO
LFS Association Co-Founder / Medical & Scientific Advisor
Dr. Robert Lufkin received his Doctor of Osteopathic Medicine from the University of New England College Of Osteopathic Medicine. He completed his residency at the Providence Portland Medical Center and his fellowship at the Baystate Medical Center/Tufts University School of Medicine. Dr. Lufkin works in medical oncology and hematology, specializing in melanoma, brain tumors, and lymphoma. He currently practices at Compass Oncology in Portland, Oregon.