The Research Team
Studying the many aspects of familial/hereditary cancer disorders requires the knowledge and expertise of several different disciplines. The Clinical Genetics Branch (CGB) Li-Fraumeni syndrome (LFS) study team includes a group of experts who each bring their own special perspective to the project.
Payal Khincha, MD
Dr. Khincha is the Principal Investigator of in charge of the LFS study. She is a board-certified pediatric hematologist-oncologist who also has a Master’s degree in clinical and translational research. She has an interest in inherited cancer predisposition syndromes, particularly those that can affect children and adolescents, such as telomere biology disorders and LFS. Dr. Khincha has overall responsibility for the conduct of this study, and her research focuses on the clinical, epidemiological and genetic aspects of LFS. She leads the clinical evaluations and screening of families enrolled in the LFS study.
Sharon A. Savage, MD, FAAP
Dr. Savage is the Lead Medical Advisor of the LFS study and leads the scientific efforts of the 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. She is particularly well known for her research related to a rare 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.
Megan Frone, MS, CGC
Ms. Frone is a board-certified genetic counselor with specialty interest and expertise in inherited predisposition to cancer and in gene variant annotation and classification. Ms. Frone also serves on the Li-Fraumeni Syndrome Association Genetic Counseling Advisory Group, and she is the Coordinator of the ClinGen TP53 Variant Curation Expert Panel which is helping to ensure that genetic test results for LFS are properly and consistently interpreted. Ms. Frone’s clinical background is in general pediatric genetics, inborn errors of metabolism, and pediatric and adult cancer genetics.
Jessica Hatton, MS, CGC
Ms. Hatton is a board-certified genetic counselor with a particular interest in hereditary cancer syndromes. She has worked on the LFS study since 2019, providing genetic counseling to participants and furthering research on the spectrum of cancers that may occur in people with LFS. She also serves on the Li-Fraumeni Syndrome Association Genetic Counseling Advisory Group and is involved in variant curation activities for TP53 through the ClinGen TP53 Variant Curation Expert Panel, helping to ensure that genetic test results for LFS are properly and consistently interpreted.
Renée Bremer, MS
Ms. Bremer is the Epidemiology Program Analyst 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 and follow-up. She is currently involved in several of the psychosocial analyses and follow-up data collection within the LFS study.
Mary Lou McMaster, MD
Dr. McMaster is an adult oncologist with training in cellular biology and clinical genetics. She is especially interested in hereditary cancer disorders and has devoted her career to multidisciplinary clinical and epidemiological studies of complex cancer predisposition syndromes. She performs clinical evaluations of adult study participants who come to the NIH for screening. She conducts research in the molecular aspects of cancer predisposition and cancer precursor conditions.
Kelvin de Andrade, MSc, PhD
Dr. de Andrade is a Research Fellow in CGB under the supervision of Dr. Savage. He holds a Bachelor’s degree in biomedical sciences from the Sao Paulo State University and Master`s and Doctoral degrees in oncology from the A.C. Camargo Cancer Center in Brazil. Dr. de Andrade has been involved in a series of genetic, clinical, and epidemiological studies trying to discover new factors that could contribute to the variable phenotype and cancer penetrance in LFS. He is also a biocurator for TP53 variants through the ClinGen TP53 Variant Curation Expert Panel.
Rowan Forbes Shepherd, PhD
Dr. Forbes Shepherd is a postdoctoral fellow who recently earned a Ph.D. in cancer genetic counseling/psychosocial genetics from the University of Melbourne, Australia. His thesis, “Coming of age with Li-Fraumeni syndrome (LFS): Perspectives of young people and health professionals,” and resultant publications were some of the very first studies aimed at understanding the psychosocial challenges faced by individuals with LFS. Dr. Forbes Shepherd is continuing his work at CGB with the primary goal of developing psychosocial interventions for young people with high genetic risk of cancer.
Ixta Obregon, BS
Ms. Obregon is a post-baccalaureate fellow working with the Li-Fraumeni syndrome study team on a project evaluating the immunologic status of individuals with germline TP53 pathogenic variants and its association with cancer.
Leatrisse Oba, MD
Dr. Oba is a general pediatrician who earned her M.D. from the University of Brasilia, Brazil in 2001. Dr. Oba joined CGB as a special volunteer in 2016 when she started conducting research with the LFS study team. She became a postdoctoral fellow in 2018. Dr. Oba is currently working on a consortium effort to understand effects of treatment for cancer on risk of subsequent cancers in LFS.
Camella Rising, PhD, MS, RDN
Dr. Rising is a behavioral scientist and registered dietitian nutritionist (RDN) with a doctoral degree in communication and a master's degree in nutritional sciences. Under the supervision of Drs. Savage and Khincha, her research focuses on developing a better understanding of health behaviors, communication behaviors, and the psychosocial needs of individuals and families living with cancer predisposition syndromes, such as LFS and dyskeratosis congenita and related telomere biology disorders. Dr. Rising is part of the psychosocial and behavioral science research team conducting the adolescent and young adulthood LFS study.
Kathryn Nichols, RN, BSN
Ms. Nichols has extensive experience in clinical nursing and cancer genetics research support and is the lead research nurse on the LFS study. She coordinates study activity, clinical cohort activity and serves as a liaison between study participants, study investigators and collaborating physicians.
Maureen Risch, RN, BSN
Ms. Risch is a clinical research nurse with the LFS study team. She supports LFS study activity and assists with data collection. Ms. Risch has extensive involvement with multiple CGB family studies.
Stephanie Steinbart, RN, MPH
Ms. Steinbart is a research nurse with well over 30 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. 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.
Margarita Aryavand, CAPT, USPHS, MSN, CRNP
Ms. Aryavand is a board-certified Nurse Practitioner and a Commissioned Officer and Captain in the US Public Health Service. She performs clinical evaluations for LFS study participants who come to the NIH for screening. Prior to joining CGB and the LFS study team, Ms. Aryavand had eighteen years of experience at the NIH, working in a variety of roles across the National Cancer Institute, the National Institute of Arthritis and Musculoskeletal Skin Diseases, and the National Institute of Diabetes and Digestive and Kidney Diseases. She also has extensive experience as a Clinical Trials Coordinator and Associate Investigator on several chemoprevention trials.
Additional Contributors to LFS Psychosocial and Behavioral Science Research
The LFS study team also includes a number of researchers and collaborators focusing on better understanding psychological, social, and behavioral health aspects of living with LFS. These team members include Allison Werner-Lin, PhD, LCSW (Associate Professor at University of Pennsylvania and Senior Advisor at NCI), Paul Han, MD, MA, MPH (Senior Scientist at NCI), Sadie Hutson, PhD, MSN (Professor at University of Tennessee, Knoxville), Alix Sleight, PhD, MPH, OTD, OTR/L (Clinical Scientist at Cedars-Sinai Cancer Center), Patrick Boyd, PhD (Cancer Research Training Award fellow at NCI), Catherine Wilsnack, MSW, LMSW (PhD student at University of Texas at Austin), and Ashley Thompson (MS student at Bay Path University).
Joseph F. Fraumeni, Jr., MD, MSc (volunteer)
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.
Janet Bracci, RN, BSN
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. Janet served as the lead research nurse on the LFS study for 10 years until her retirement in 2021.
Jennifer Loud, DNP, CRNP
Dr. Loud is a board-certified adult nurse practitioner. She served as an Associate Investigator on the LFS study for before her retirement in 2020, and she spent a total of 27 years of service at the NIH. She was 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.
June A. Peters, MS
Ms. Peters has specialty training in both genetic counseling and marriage/family therapy. She served as the lead genetic counselor for the LFS study before her retirement in 2017. 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.