“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
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.
National Cancer Institute’s Division of Cancer Epidemiology and Genetics’ Linkage Newsletter: A 50-years Legacy of Cancer Research
American Association of Cancer Research Fellows Biography of Dr. Fraumeni
Drs. Li (posthumously) and Fraumeni received the LFS Association’s inaugural “Pioneer Award” at the 2018 International LFS Association Symposium held at the Hospital for Sick Children in Toronto.
Dr. Judy Garber
Professor of Medicine, Harvard Medical School
Director, Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute
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.
American Association of Cancer Research Fellows Biography of Dr. Garber.
Dr. Garber has recently founded the Dana-Farber Cancer Institute’s Li-Fraumeni Syndrome and TP53 Center.
Dr. Garber was the inaugural recipient of the LFS Association’s “Hero Award.”
Dr. David Malkin
Senior Staff Oncologist, Hematology/Oncology, Hospital for Sick Children
Director, Cancer Genetics Program, Hospital for Sick Children
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
Branch Chief and Senior Investigator, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer InstituteDr. 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
Medical Director, High Risk Pediatric Cancer Clinic, Huntsman Cancer Institute
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.
Dr. Christian Kratz
Director, Department of Pediatric Hematology and Oncology, Hannover Medical School
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.
Dr. Louise Strong – Emeritus
Emeritus Professor of Genetics, Cancer Genetics, Breast Medical Oncology
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 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.
American Association of Cancer Research Fellows Biography of Dr. Strong
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.
The LFSA’s Scientific Advisory Board (SAB) was established in October of 2020. It brings together top TP53 scientists from around the world, representing a cross section of the field of inherited TP53 variations and its consequences. The LFSA’s SAB was instituted to advise the LFSA on basic research and applications to future clinical trials. Co-chaired by both Drs. Maria Isabel Achatz and Arnold Levine, the LFSA’s SAB is charged with suggesting new areas of research, acquiring funding, and providing a global approach to LFS research.
Pairing the LFSA’s global community with the international expertise of the LFSA’s SAB is a “win-win” for both LFS families and science, world-wide. This match provides scientists a large patient population in a rare disorder. With access to many patients all with the same variation but different genetic backgrounds and HLA types (Brazil), inbred population groups, Li-Fraumeni-like patients with the Mormon genetic lineages (via the Huntsman Cancer Center) and large lineages in Brazil, the LFSA’s SAB can explore the impact of racial differences. These are just some of the possible directions that basic scientists could take advantage of together with clinical scientists. The LFSA’s SAB has much to offer the LFS community with their research ideas and suggestions for the direction of future research.
LFSA’s most recent research grant was awarded to Dr. Arnold Levine at the Institute for Advanced Studies in in memory of Professor Thierry Frebourg. Dr. Levine and his collaborators, to include co-sponsor Dr. Michael Walsh of Sloan-Kettering Memorial Hospital, seek to determine if the immune system is responding to breast cancer in Li-Fraumeni syndrome patients and what type of immune cells may be responding. Knowing the particulars of an immune response in TP53 driven LFS-breast cancers may lead to a better understanding of which immunotherapies to utilize to treat patients and possibly lead to new and more effective therapies.
The grant to Dr. Levine and colleagues is awarded in honor and memory of Professor Thierry Frebourg. Thierry served as chapter chair for LFSA – France. He passed away suddenly and unexpectedly this past March. Pr. Frebourg was a true asset to the global community as a major contributor to cancer genetic research and Li-Fraumeni syndrome. Thierry’s boundless energy, dedication, and smile will be forever ingrained in our souls.
View Dr. Arnold Levine’s May 22, 2021, introduction of the LFSA’s SAB here. (13:11)
Maria Isabel Achatz – LFSA’s SAB Co-chair
Dr. Maria Isabel Waddington Achatz, MD, M.Sc., PhD., is a medical geneticist coordinator of the Oncogenetics Unit at Hospital Sírio-Libanes in São Paulo and Associate Researcher at Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, USA. Her research, beginning in 2002, allowed the initial description of Brazilian families with Li-Fraumeni syndrome due to the p.R337H variation. Since then, Dr. Achatz described the Brazilian variant of the syndrome and its differences in relation to the classic LFS. Currently, she continues to focus all her efforts on diagnosing patients at risk and developing screening methods that enable risk reduction and early diagnosis in LFS. Dr. Maria Isabel is currently the coordinator of the Brazilian Network of Hereditary Cancer (REBRACH) and service, and is a co-chair of the LFS Association’s Latin America Chapter.
Arnold Levine – LFSA’s SAB Co-chair
Prof. Arnold J. Levine, PhD, Professor Emeritus at the Institute for Advanced Study in Princeton, received his B.A. in Biology from Harpur College, SUNY, his Ph.D. from the University of Pennsylvania, and trained as a Postdoctoral Fellow at the California Institute of Technology in the laboratory of Robert Sinsheimer. In 1968, Dr. Levine joined Princeton University as an Assistant Professor, becoming a Professor of biochemistry in 1976. In 1979, he moved to the SUNY Stony Brook School of Medicine to Chair the Department of Microbiology, the same year he and others discovered the p53 tumor suppressor protein, a molecule that inhibits tumor development. He returned to Princeton in 1984. Between 1984 and 1996, he presided over a major expansion of Princeton’s life sciences programs as Chairman of the Department of Molecular Biology. From 1998 to 2002, Dr. Levine was President of The Rockefeller University.
Dr. Levine established the Simons Center for Systems Biology at the Institute for Advanced Study, concentrating on research at the interface of molecular biology and the physical sciences. He helped shape U.S. science priorities as chairman of an influential 1996 review panel on federal AIDS research funding. He also chaired the National Cancer Advisory Board, which advises the National Academy of Sciences and its Institute of Medicine on cancer policy. Dr. Levine’s work has been recognized with numerous honors and awards. He was elected to the National Academy of Sciences in 1991, and to its Institute of Medicine in 1995. In April 2001, Levine received the first Albany Medical Center Prize in Medicine and Biomedical Research, the largest annual prize in science or medicine offered in the United States.
The research paths of the Levine group have provided clear evidence that the TP53 pathway plays a central role in the prevention of human cancers and that polymorphic variations in components of the pathway can influence individual responses to environmental mutagens, age of cancer onset, sexual dimorphisms in cancers, response to therapy, and survival times. This research has helped to uncover the genetic origins of cancer and focus drug discovery on a rational path to treat cancers.
Pierre Hainaut
Dr. Pierre Hainout’s research focuses on TP53 variations and biomarkers in the transition from chronic disease to cancer. From 1994 to 2011, he developed the TP53 mutations database at IARC, a source of information on the causes and consequences of mutations affecting the cancer suppressor protein p53.
Dr. Hainout’s current research focuses on the effects of gain-of-function in lung cancer and on biomarkers for the early detection of liver and lung cancers, particularly in low-resource countries.
Dr. Hainout is the author of more than 450 publications and 50 books. He has co-edited books on p53 (“25 Years of p53 Research” 2005, 2007, “p53 in the Clinics“, Springer), a manual of molecular epidemiology (“Molecular Epidemiology: Principle and Practice“, IARC Press, 2011), a two-volume manual on human biobanks (“Human Biobanking, Principle and Practice, 2017, 2018) and is co-editor with Paolo Boffetta of the 3rd edition of the Elsevier Cancer Encyclopedia (2018).
Moshe Oren
Born in Poland, Prof. Moshe Oren immigrated to Israel as a child in 1950. He received his MSc degree in microbiology from Tel Aviv University in 1970, and his PhD in molecular virology from the Weizmann Institute of Science in 1978. He completed postdoctoral work at Princeton University and at SUNY-Stony Brook. In 1981, he joined the Weizmann Institute where he holds the Andre Lwoff Professorial Chair in Molecular Biology. Prof. Oren has held a number of senior positions at the Institute: he served as Director of the Leo and Julia Forchheimer Center for Molecular Genetics, Chair of the Council of Professors and of the Senior Promotions Committee, and from 1999 to 2003, he was Dean of the Faculty of Biology. In 2015, he was appointed the first Director of the newly established Moross Integrated Cancer Center.
Prof. Oren has spent much of his career studying a key player in molecular cancer control—the TP53 tumor suppressor gene. In the early 1980s, he cloned p53, meaning that he determined the sequence of its genetic letters, which has provided the foundation for much of the subsequent p53 research worldwide. Prof. Oren also obtained some of the earliest evidence that TP53 is indeed a tumor suppressor and was the first to prove that this gene causes apoptosis, the natural process that leads to cell death. These findings have enabled physicians to develop innovative therapeutic strategies, including the first clinically approved anti-cancer gene therapy. His work focuses on understanding the mechanisms that govern the activity of TP53 in normal and in cancer cells, and he also investigates the involvement of micro-RNAs, tiny bits of encoded genetic material that regulate protein production, in cancer.
Prof. Oren’s numerous awards include the Leukemia Society of America Scholarship (1985-1990), the Feher Award for Medical Research (1993), the Abisch-Frenkel Prize for Excellence in the Life Sciences (1999), the Sergio Lombroso Award in Cancer Research, the Lombroso Prize for Cancer Research (2002), the Harvey Lectureship of NY (2002), the EMET Prize in Biology (2003), a Merit Award of the National Cancer Institute (2003), and the Israel Prize in 2008 for biochemistry. He serves on the editorial boards of several leading scientific journals and is a member of the Israel Academy of Sciences and Humanities, a Foreign Associate of the US National Academy of Medicine, and a Foreign Honorary Member of the American Academy of Arts and Sciences and of the Academia Europeae.
Guillermina Lozano
Dr. Guillermina (Gigi) Lozano is a renowned geneticist recognized for her studies of the p53 tumor suppressor pathway. This pathway is undermined in a large percent of human cancers via mutations and deletions of p53. Her laboratory identified a transcriptional activation function for p53. Using mouse models, her team characterized the physiological importance of Mdm2 and Mdm4 proteins as potent inhibitors of p53. The Mdm proteins are over expressed in many cancers that lack p53 mutations presenting an alternate mechanism of eliminating p53 activity. Other mouse models inheriting the most common p53 mutations revealed gain-of-function phenotypes that drive metastases.
Dr. Lozano received her BS degree in Biology and Mathematics, Magna Cum Laude, at the University of Texas Rio Grande Valley. She completed graduate studies at Rutgers University and the University of Medicine and Dentistry of New Jersey, and a post-doctoral fellowship with Dr. Arnold Levine at Princeton University.
Dr. Lozano was hired as an Instructor at The University of Texas MD Anderson Cancer Center in 1987 and quickly rose through the ranks to her current position as professor and chair of the department of Genetics. Dr. Lozano is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She has received the Minorities in Cancer Research Jane Cooke Wright Lectureship and the Women in Cancer Research Charlotte Friend Lectureship awards both from the American Association for Cancer Research. She is also the recipient of distinguished alumni awards from both her undergraduate and graduate alma maters.
Drew Pardoll
Dr. Drew Pardoll is the Abeloff Professor of Oncology, Medicine, Pathology and Molecular Biology and Genetics at the Johns Hopkins University, School of Medicine. He is the Director of the Bloomberg~Kimmel Institute for Cancer Immunotherapy and Co-Director of the Cancer Immunology Program at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins.
Dr. Pardoll attended Johns Hopkins University where he earned his M.D., Ph.D. in 1982 and completed his Medical Residency and Oncology Fellowship in 1985. He then worked for three years at the National Institutes of Health as a Medical Staff Fellow. Dr. Pardoll joined the departments of oncology and medicine in 1988. Dr. Pardoll has published over 300 papers as well as over 20 book chapters on the subject of T cell immunology and cancer vaccines. He has served on the editorial board of the Journal of the National Cancer Institute and Cancer Cell, and has served as a member of scientific advisory boards for the Cancer Research Institute, the University of Pennsylvania Human Gene Therapy Gene Institute, Biologic Resources Branch of the National Cancer Institute, Harvard-Dana Farber Cancer Center, Cerus Corporation, Global Medical Products Corporation, Genencor Corporation, CellGenesys Corporation, Mojave Therapeutics, the American Association of Clinical Oncology, the American Association of Cancer Research, and now for the LFS Association.
Dr. Pardoll has made a number of basic advances in Cellular Immunology, including the discovery of gamma – delta T cells, NKT cells and interferon-producing killer dendritic cells. Over the past two decades, Dr. Pardoll has studied molecular aspects of dendritic cell biology and immune regulation, particularly related to mechanisms by which cancer cells evade elimination by the immune system. He is an inventor of a number of immunotherapies, including GVAX cancer vaccines and Listeria monocytogenes based cancer vaccines. Dr. Pardoll’s basic immunology discoveries include the identification of gd-T cells, NKT cells and IKDC. He elucidated the role of Stat3 signaling in tumor immune evasion and in Th17 development, leading to the discovery that Stat3-driven Th17 responses promote carcinogenesis. Dr. Pardoll discovered one of the two ligands for the PD-1 inhibitory receptor and leads the Hopkins cancer immunology program that developed PD-1 pathway-targeted antibodies, demonstrating their clinical activity in multiple cancer types.
Dr. Pardoll’s more than 300 articles cover cancer vaccines, gene therapies, cancer prevention technologies, recombinant immune modulatory agents for specific pathways that regulate immunity to cancer and infectious diseases.
Sean Downing – LFSA’s Scientific Advisor
Dr. Sean Downing is the Senior Director of Clinical Biomarker Innovation and Development at Takeda Pharmaceuticals and the Head of Molecular Pathology and Genomics. Dr. Downing earned his PhD from the Faculty of Medicine at the University of New South Wales in Syndey, Australia where is work focused on the roles of TP53 variations in the establishment and progression of prostate cancer. His MSc was earned at the University of Massachusetts and focused on the role of TP53 in mammary gland development. Dr. Downing performed his postdoc at Dana-Farber Cancer Institute in Boston developing novel cell lines that more closely replicated the natural course of prostate cancer genetic alterations, including TP53 variations, worked on blood-borne biomarkers of prostate cancer, and investigated genes suspected of causing the heredity form of prostate cancer.
Since his postdoc, Dr. Downing’s work has shifted more to genomic and proteomic biomarkers of cancer, as well as, other diseases. While at Children’s Hospital Boston, he discovered a number of biomarkers in platelets that predict response to anti-angiogenic therapy and the presence of tumors in a number of cancers. Dr. Downing is the coinventor of the first NGS pan-cancer next generation sequencing test for cancer, FoundationOne, at Foundation Medicine, and has been awarded several patents. The test examines hundreds of genes involved in tumor initiation and progression, including TP53. Sean has established several CLIA laboratories that provide clinical tests to patients and has been actively involved in clinical-based research for 20 years. His current role examines biomarkers for cancer and gastrointestinal disorders, as well as, the development of diagnostic tests.
