The Research Team
Studying the many aspects of familial/hereditary cancer disorders reqstuuires 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.
Payal Khincha, MD
Dr. Khincha is the Principal Investigator in charge of the Li-Fraumeni Syndrome 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 Li-Fraumeni Syndrome. 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 Li-Fraumeni Syndrome 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.
Jennifer Loud, DNP, CRNP
Dr. Loud is an Associate Investiagor on the Li-Fraumeni Syndrome Study and a board-certified adult nurse practitioner. She is 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’s clinical practice includes the evauation of adult research participants who are seen at the NIH.
Megan Frone, M.S., C.G.C.
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. Her current research centers on evaluation of sequencing data from long-term childhood cancer survivors to identify common and rare genetic variants that influence risk of second cancers as well as variants that modify the effects of radiotherapy and chemotherapy and subsequent cancer risk. Ms. Frone’s clinical background is in general pediatric genetics, inborn errors of metabolism, and pediatric and adult cancer genetics. Megan is the lead genetic counselor for the LFS Study.
Renée Bremer, MS
Ms. Bremer is the Epidemiologic Program Manager 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.
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.
Mary Lou McMaster, M.D.
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. . Sheconducts research in the molecular aspects of cancer predisposition and cancer precursor conditions.
Maria Isabel Achatz, MD, PhD
Dr. Achatz is an Associate Investigator on this study and an adjunct investigator in CGB. Most of her research focuses on cancer predisposition syndromes, mainly LFS and germline mutations in the TP53. 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.
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.
Leatrisse Oba, M
Dr. Oba is a general pediatrician who earned her M.D. from the University of Brasilia, Brazil in 2001, and has worked in clinical research for four years. Dr. Oba is currently working on a consortium effort to understand effects of treatment for cancer on risk of subsequent cancers in 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 (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.
June A. Peters, MS
Ms. Peters 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 until her retirement in 2017.