Associate Program Director, General Clinical Research Center

Children's Medical Research Institute/Kimberly V. Talley Chair in Genetics

Professor of Pediatrics; Head of Section of Genetics

John-Mulvihill@ouhsc.edu

Research Interests:

My associates and collaborators study the clinical, molecular, and epidemiology genetics of cancer and birth defects and the genetic consequences of modern therapeutics.  I am GCRC protocol PI on three projects and co-investigator on three more. I advocate for mentoring, advise the OUHSC MD/PhD program, and help develop Native American research initiatives, especially as Program Manager for four NIH-IHS Center grants with the Five Tribes of Eastern Oklahoma that has three GCRC protocols.  Board-certified in pediatrics and medical genetics, my research focuses on the genetics of human cancer, with studies of cancer families and, in the past, mapping of 10 cancer-predisposing genes including neurofibromatosis 1 and multiple endocrine neoplasia 1. A recent effort has been on searching for human germ cell mutagenesis, by studying the offspring of cancer survivors for possible excess of genetic defects.  Co-founder and second president of the International Genetic Epidemiology Society, I edited its journal, Genetic Epidemiology, as well as 6 monographs. Current federal funding comes from NCI, CDC, Indian Health Service, Health Resources and Services Administration, and the Department of Defense’s Neurofibromatosis Research Program.  I am adjunct professor in the College of Public Health, Department of Biostatistics and Epidemiology, and a member of the emerging OU Cancer Institute.

Administrative: Head of the Section of Genetics of the Department of Pediatrics, and clinical genetics consultant to OUHSC campus.  Chair of the Oklahoma Genetics Advisory Council, at request of the Commissioner of Health. 

Education:

            1965:  BS (Honors), College of the Holy Cross, Massachusetts, with junior year                             at the Rome (Italy) Campus of Loyola University of Chicago.

            1967:  BMS, Dartmouth Medical School, New Hampshire

            1969:  MD (with thesis):  University of Washington

            1972:  Research Fellowship, National Cancer Institute, NIH, Maryland

            1974:  Residency in Pediatrics, the Johns Hopkins University

Recent Publications:

Jupe ER, Badgett AA, Neas BR, Craft MA, Mitchell DS, Resta R, Mulvihill JJ, Aston CE, Thompson LF: A single nucleotide polymorphism in the prohibitin 3’ untranslated region is a marker of breast cancer susceptibility.  Lancet 357:1588-1589, 2001.

Winther J, Sankila, R, Boice J, Tulinius H, Bautz A, Barlow L, Glattre E, Langmark F, Moller T, Mulvihill JJ, Olafsdottir G, Ritvanen A, Olsen J: Cancer in siblings of children with cancer in the Nordic countries: A population based cohort study.  Lancet 358:711-717, 2001.

Hannon WH, Therrell BL Jr, Becker WJ, Chace DH, Cunningham GC, Grady GF, Hoffman GL, Mann MY, Muenzer J, Mulvihill JJ, Panny SR: A report of a work group: Using tandem mass spectrometry for metabolic disease screening among newborns. MMWR 50(RR03): 1-22, 2001.

Foster MW, Sharp RR, Mulvihill JJ: Pharmacogenetics, race and ethnicity: Social identities and individualized medical care. Therapy Drug Monitoring, 23(3):232-8, 2001.

Robison LL, Mertens AC, Boice JD, Breslow NE, Donaldson SS, Green DM, Li FP, Meadows AT, Mulvihill  JJ, Neglia JP, Nesbit ME, Packer RJ, Potter JD, Skiar CA, Smith MA, Stovall M, Strong LC, Yasui Y,  Zeltzer LK: Study design and cohort characteristics of the Childhood Cancer Survivor Study: A multi-institutional collaborative project. Med Pediatric Oncol 38:229-239, 2002.

Mulvihill JJ, Whitton S, Horn P: Genetic consequences of modern therapeutics: Iatrogenic mutagenesis. In King RA, Rotter JI, Motulsky AG (Eds): The Genetic Basis of Common Disease. Second Edition.  New York: Oxford University Press, pp 1023-1032, 2002. 

Mulvihill JJ: Celebrating the structure of DNA: 50 years and beyond. J Okla State Med Assoc 96:184, 2003.

Mulvihill JJ, Blackett PR, Palmer SE: Expanding metabolic screening of newborns: can the health care industry do better than public health? J Okla State Med Assoc 96:477-481, 2003.

Boice, Jr, JD, Tawn EJ, Winther JF, Donaldson SS, Green DM, Mertens AC, Mulvihill JJ, Olsen JH, Robison LL, Stovall M:  Genetic effects of radiotherapy for childhood cancer.  Health Physics 85:65-80, 2003

Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ:  A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 65:400-404, 2004.

Winther JF, Boice JD Jr, Mulvihill JJ, Stovall M, Frederiksen K, Tawn EJ, Olsen JH:  Chromosomal abnormalties among offspring of childhood-cancer survivors in Denmark:  A population-based study.  Am J Hum Genet 74:1282-1285, 2004.

Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, Falk RE:  Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.  Am J Med Genet 130A:331-339, 2004.

Aston CE, Ralph DA, Lalo DP, Manjeshwar S, Gramling BA, DeFreese DC, West AS, Branam DE, Thompson LF, Craft MA, Mitchell DS, Shimasaki CD, Venkateswarlu K, Mulvihill JJ, Jupe ER: Oligogenic combinations associated with breast cancer risk in women under 53 years of age.  Human Genet 116:208-221, 2005.

Lee J, Stanley JR, Vaz SA, Mulvihill JJ, Wilson P, Hopcus-Niccum D, Li S:  Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH.  Am J Med Genet 132A:206-208, 2005.

Lee J, Hopcus-Niccum DJ, Mulvihill JJ, Li S:  Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3’ EWSR1 gene in a patient with Ewing sarcoma.  Cancer Genet Cytogenet 159:177-180, 2005.

Purandare SM, Lee J, Hassed S, Steele MI, Blackett PR, Mulvihill JJ, Li S: Ring chromosome 9 [r(9)(p24q34)]: A report of two cases:  Am J Med Genet 138A:229-235, 2005.

Winther JF, Boice Jr., JD, Frederiksen K, Bautz A, Mulvihill JJ, Stovall M, Olsen JH:  Congenital malformations in children of Danish survivors of childhood and adolescent cancer. (in review)