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About DCEG

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

Senior Clinician

Location: 6120 Executive Boulevard, EPS Room 7020
Phone: 301-594-7642
Fax: 301-496-1854
E-mail: alterb@mail.nih.gov

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

Biography

Dr. Alter received an A.B. from Radcliffe College, an M.D. from Johns Hopkins University School of Medicine, and an M.P.H. from Johns Hopkins University School of Public Health. She did 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. Her previous faculty appointments include Assistant and Associate Professor of Pediatrics at Harvard Medical School (1974-79), Professor of Medicine and of Pediatrics at Mount Sinai School of Medicine (1979-92), and Professor of Pediatrics and of Obstetrics and Gynecology at the University of Texas Medical Branch (1992-1999), where she was Chief of Pediatric Hematology/Oncology. In 1999 she returned to Johns Hopkins to obtain her Masters in Public Health (MPH) and then joined the NCI in September, 2000 in the Clinical Genetics Branch. Her research interests are in cancer-prone genetic syndromes, particularly the hematologic bone marrow failure disorders. She has published more than 275 peer-reviewed articles, books and book chapters.

Research Interests

  • Human Genetics Program
  • Clinical Genetics Branch
  • Clinical Cancer Genetics

Research

A new interdisciplinary clinical research program has been developed within CGB, involving systematic investigation of cancer in the inherited bone marrow failure syndromes (http://marrowfailure.cancer.gov/). 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, myeloid leukemias, and cancers of the 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, as well as additional even less common diseases. 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.

Selected Publications

  • Alter BP. Cancer in Fanconi Anemia, 1927-2001. Cancer 97:425-440, 2003.
  • Rosenberg PS, Greene MH, Alter BP. Cancer Incidence in persons with Fanconi Anemia. Blood 101:822-826, 2003.
  • Rosenburg PS, Socie G, Alter BP, Gluckman E: Risk of head and neck squamous cell cancer and death in patients with Fanconi Anemia who did and did not receive transplants. Blood 105:67-73, 2005.
  • Alter BP, Rosenberg PS, Brody L: Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics 44:1-9, 2007.
  • Giri N, Batista D, Alter BP, Stratakis CA: Endocrine Abnormalities in Patients with Fanconi Anemia. Journal of Clinical Endocrinology and Metabolism 92:2624-2631, 2007.
  • Savage SA, Giri Alter BP, Baerlocher G, Savage SA, Chanock SJ, Weksler BB, Willner J, Peters JA, Giri N, Lansdorp PM: Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 110:1439-1447, 2007.
  • N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP: TINF2, a component of the shelterin telomere protection complex, is mutated in Dyskeratosis Congenita. American Journal of Human Genetics 82:501-509, 2008.
  • Rosenberg PS, Alter BP, Ebell W: Cancer risks in Fanconi anemia: Findings from the German Fanconi Anemia (GEFA) Registry. Haematologica 93:511-517, 2008.
  • Denny CC, Alter BP, Giri N, Peters J, Wilfond BS: All in the Family: Disclosure of “Unwanted” Information to an Adolescent to Benefit a Relative. American Journal of Medical Genetics, Part A 146A:2719-2724, 2008.
  • Savage SA, Alter BP: Dyskeratosis congenita. Hematology/Oncology Clinics of North America 23:215-231, 2009.
  • Alter BP, Giri N, Savage SA, Rosenberg PS: Cancer in dyskeratosis Congenita. Blood 113: 6549-6557, 2009.
  • Shimamura A, Alter BP: Pathophysiology and Management of Inherited Bone Marrow Failure Syndromes. Blood Reviews 24:101-122, 2010.
  • Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr A, Greene MH, Rosenberg PS: Malignancies and Survival Patterns in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort Study. British Journal of Haematology 150:179-188, 2010.
  • Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Vilk-Ravel SS, Bitan M, Kaplinsky C, Ben Barak A, Ronit Elhasid R, Kapelusnik J, Koren A, Levin C, Atias D, Laor R, Yaniv I, Rosenberg PS, Alter BP: Frequency and Natural History of Inherited Bone Marrow Failure Syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica 95:1300-1307, 2010.
  • Rosenberg PS, Tamary H, Alter BP: How High are Carrier Frequencies of Rare Recessive Syndromes? Estimates for Fanconi Anemia in the United States and Israel. American Journal of Medical Genetics, Part A 155:1877-1883.

Collaborators

DCEG Collaborators

  • Mark H. Greene, M.D., Jennifer Loud, M.S.N., C.R.N.P., June Peters, M.S., Christian P. Kratz, M.D., Sharon A. Savage, M.D., Philip S. Rosenberg, Ph.D., Roni Falk, M.S., Ligia Pinto, Ph.D.

    • NCI/NIH Collaborators

    • Diane Arthur, MD; NCI
    • Lawrence Brody, PhD; NHGRI
    • Irina Maric, MD; CC/ODDCC/DLM/HS
    • Shyam Sharan, PhD; NCI/CCR/MCGP
    • Pamela Stratton, M.D., NICHD/SPE

      • Outside Collaborators

      • Peter Lansdorp, M.D., Ph.D., University of British Columbia, Canada
      • Hannah Tamary, M.D., Schneider Children’s Hospital, Israel
      • Akiko Shimamura, M.D., Ph.D., Fred Hutchinson Cancer Research Center, Seattle, WA