Blanche P. Alter, M.D., M.P.H.

Senior Clinician

Clinical Genetics Branch


9609 Medical Center Drive
Room SG/6E452
Rockville, MD 20850


Research Topics

Dr. Blanche Alter's research interests are in cancer-prone genetic syndromes, particularly the hematologic bone marrow failure disorders.

She has developed an interdisciplinary clinical research program, conducting systematic investigations of cancer in the Inherited Bone Marrow Failure Syndromes. The prototype disorder for this program is Fanconi anemia, in which there is a large excess of unusual cancers that occur at atypically early ages, including myelodysplastic syndrome, acute myeloid leukemia, and cancers of the oral cavity and oropharynx, esophagus, cervix and vulva, and liver. Other hematologic conditions with increased occurrences of specific and early cancers include dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. This set of disorders serves as a model for the study of mechanisms of cancer development in human populations.

This project involves active, protocol-driven clinical research. Investigations include surveys to determine the incidence and characteristics of cancer in each of the syndromes; case-control studies to identify additional risk factors and perhaps new cancer pathways; genotype/phenotype correlations with reference to cancer susceptibility; heterozygote surveys with regard to the possible relation between the carrier state and cancer; and biologic studies of the tumors to determine their resemblance to their counterparts in the general population. The patients who have these syndromes comprise a group at high risk of cancer which may be suitable for studies of cancer screening and prevention modalities.

This study is open for enrollment.


Dr. Alter received a B.A. from Radcliffe College and an M.D. from Johns Hopkins University School of Medicine. She completed an internship and residency in pediatrics at Johns Hopkins, and a fellowship in pediatric hematology/oncology at Boston Children's Hospital, as well as a postdoctoral fellowship at the Massachusetts Institute of Technology. She is board certified in Pediatrics and in Pediatric Hematology/Oncology, and is a fellow of the American Academy of Pediatrics and an elected member of the Association of American Physicians. Her previous faculty appointments include:

  • Assistant and Associate Professor of Pediatrics, Harvard Medical School (1974-1979)
  • Professor of Medicine and Pediatrics, Mount Sinai School of Medicine (1979-1992)
  • Professor of Pediatrics and of Obstetrics and Gynecology, and Chief of Pediatric Hematology/Oncology, University of Texas Medical Branch (1992-1999)

In 1999, Dr. Alter returned to Johns Hopkins to obtain an M.P.H. and then joined the Clinical Genetics Branch in September 2000. Her research interests are in cancer-prone genetic syndromes, particularly the hematologic bone marrow failure disorders. She has published more than 350 peer-reviewed articles, books and book chapters.

Selected Publications

  1. Alter BP, Giri N, Savage SA, Quint WG, de Koning MN, Schiffman M. Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus. Int J Cancer. 2013;133(6):1513-5.

  2. Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014;124(1):24-32.

  3. Balakumaran A, Mishra PJ, Pawelczyk E, Yoshizawa S, Sworder BJ, Cherman N, Kuznetsov SA, Bianco P, Giri N, Savage SA, Merlino G, Dumitriu B, Dunbar CE, Young NS, Alter BP, Robey PG. Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. Blood. 2015;125(5):793-802.

  4. Alter BP, Giri N, Savage SA, Rosenberg PS. Telomere length in inherited bone marrow failure syndromes. Haematologica. 2015;100(1):49-54.

  5. Khan NE, Rosenberg PS, Lehmann HP, Alter BP. Preemptive Bone Marrow Transplantation for FANCD1/BRCA2. Biol Blood Marrow Transplant. 2015;21(10):1796-801.

This page was last updated on November 9th, 2020