The Research Team
Studying the many aspects of familial/hereditary cancer disorders requires the knowledge and expertise of many different disciplines. The CGB LFS study team includes a group of experts who each bring their own special perspective to the project.
Sharon A. Savage, MD, FAAP
Dr. Savage is the Principal Investigator in charge of the Li-Fraumeni Syndrome Study. She is board-certified in both pediatrics and pediatric hematology/oncology, and has extensive training in laboratory-based research related to how cancers develop. Dr. Savage has a special interest in the hereditary cancer disorders, which affect children and teenagers. She is particularly well known for her research related to a rare childhood cancer susceptibility disorder called dyskeratosis congenita, and has discovered several genes that cause this specific syndrome. She has overall responsibility for the conduct of this study and will be focusing particularly on molecular and genetic aspects of LFS.
Maria Isabel Achatz, MD, PhD
Dr. Achatz is a Co-Principal Investigator on this study and holds an M.D., as well as an M.Sc. and Ph.D. in oncology. Most of her research focuses on cancer predisposition syndromes, mainly Li-Fraumeni syndrome and germline mutations in the TP53 tumor suppressor gene. Dr. Achatz practices as both a physician and scientist focusing mostly on translational research. She is well known for describing the high prevalence of LFS patients in Brazil due to the founder germline mutation in TP53 (P.R337H TP53). Her other research interests include the clinical diagnosis and molecular basis of LFS, early detection and innovative screening methods for LFS, and genomic patterns and expression profiles of tumors in TP53 mutation carriers.
Payal Khincha, MD
Dr. Khincha is a pediatric hematologist-oncologist who also has a master’s degree in clinical and translational research. She is currently a clinical fellow in CGB. She has an interest in cancer predisposition syndromes affecting children and adolescents and is involved with clinical evaluations and screening of the children enrolled in the LFS study. She also conducts research related to the molecular and genetic aspects of LFS.
Jennifer Loud, CRNP, DNP
Dr. Loud is a board-certified adult nurse practitioner in CGB, where she is currently involved in multiple clinical and epidemiologic studies aimed at learning about hereditary cancer and at better understanding the psychosocial impact of individuals identified as being at high genetic risk of cancer. Dr. Loud’s current research interests include assessing the impact of risk identification and risk management on various aspects of an at-risk individual's life. Dr. Loud assists with the clinical evaluations and screenings of patients in the LFS study.
June A. Peters, MS
Ms. Peters is senior staff on the study. She has specialty training in both genetic counseling and marriage/family therapy. Ms. Peters was one of the earliest practitioners of cancer-focused genetic counseling in the United States. She is well-known both nationally and internationally for her expertise and creativity in the genetic counseling arena, and has a special interest in the care of persons from cancer-prone families. Ms. Peters will serve as the senior genetic counselor for the LFS Study.
Renée Bremer, MS
Ms. Bremer (contractor) is the Program Manager in CGB. She holds a master’s degree in epidemiology from Michigan State University where she completed her thesis on adolescent physical activity and breast cancer risk. She has been a collaborator on multiple CGB-related research projects since December 2009. Ms. Bremer is the lead investigator on the Physical Activity and Diet (PAD) component of the LFS study and oversees LFS study management.
Jennifer Young, MS, MA, LGMFT
Ms. Young is a predoctoral fellow in CGB. She holds a master's degree in couples and family therapy and is a Licensed Graduate Marriage and Family Therapist. Jennifer is currently getting her Ph.D. from the School of Public Health at the University of Maryland, Department of Family Science. She is interested in the communication and coping processes of families with cancer predisposition syndromes. Jennifer runs the qualitative family interview portion of the LFS study.
Rosamma Decastro, MSN, CRNP
Ms. Decastro is a family nurse practitioner working in CGB. She has extensive experience in primary care and has worked at the NIH for the past 16 years with research populations. Prior to joining the LFS study, she worked at the National Heart, Lung, and Blood Institute studying lymphangioleiomyomatosis, nontuberculous mycobacterial infection, primary immune deficiency, and other rare diseases. Ms. Decastro is involved with the clinical evaluations and screening of patients in the LFS study.
Kelvin de Andrade, MSc
Mr. de Andrade is a predoctoral visiting fellow in CGB under the supervision of Drs. Savage and Achatz. He holds a Bachelor’s degree in biomedical sciences from the Sao Paulo State University and a Master`s degree in oncology from the A.C. Camargo Cancer Center in Brazil. He has an interest in cancer predisposition syndromes with a particular focus on the LFS Brazilian founder mutation. Mr. de Andrade is involved in a series of genetic and epidemiological studies trying to discover new aspects and factors that could contribute to the clinical and tumor heterogeneity in LFS.
Talia Wegman-Ostrosky MD, PhD
Dr. Wegman is a medical geneticist who also has a master’s and Ph.D. in human genetics. She is currently a postdoctoral fellow in CGB. She has an interest in cancer predisposition syndromes and will focus on epidemiological and genetic aspects of LFS.
Janet Bracci, RN, BSN (contractor)
Ms. Bracci is a bachelor’s degree-prepared registered nurse, with experience in nursing-related administrative, consulting, educator, and practitioner roles. She is an experienced oncology and bone marrow transplant nurse and serves as the lead research nurse on the LFS study.
Kathryn Nichols, RN, BSN (contractor)
Ms. Nichols is a clinical research nurse with the LFS team. With her prior experience on other CGB clinical protocols, she helps arrange and staff LFS clinics on the NIH campus. Ms. Nichols may be the first person that participants meet when they attend our LFS clinic.
Maureen Risch, RN, BSN
Ms. Risch is a clinical research nurse for the LFS study. She coordinates the clinical evaluations for families in the clinic cohort. Ms. Risch has had extensive involvement with multiple CGB family studies.
Stephanie Steinbart, RN, MPH (contractor)
Ms. Steinbart is a research nurse with 31 years of combined experience in cancer genetics, public health, program management, patient care, and teaching. She serves as NCI’s family studies referral nurse, and is often the first person that potential study participants encounter as they explore whether they are interested in participating in our studies. She can be reached either by phone (1-800-518-8474) or email (firstname.lastname@example.org). Those interested in learning more about the LFS study and determining whether they might be eligible to participate are encouraged to contact Ms. Steinbart directly.
Joseph F. Fraumeni, Jr., MD, MSc
Dr. Fraumeni has been at the NIH since 1962 and was the Director of DCEG from 1979 to 2012. During this time he was involved in the discovery, description, and delineation of the LFS, in collaboration with Dr. Frederick Li. Since retirement, Dr. Fraumeni has been an Advisor to the Director of NCI.