Positions

Professor
Pediatrics-Oncology
Baylor College of Medicine
Houston, TX, US
Professor
Molecular and Human Genetics
Baylor College of Medicine
Professor
Program in Integrative Molecular and Biomedical Sciences
Baylor College of Medicine
Professor
Human Genome Sequencing Center
Baylor College of Medicine
Director
Neurofibromatosis Clinic
Texas Children's Hospital
Director
Cancer Genetics Clinical and Research Programs
Texas Children's Hospital
Director
M.D./Ph.D. Medical Scientist Training Program
Baylor College of Medicine

Education

BS from Massachusetts Institute Of Technology
Chemistry
PhD from Harvard University
Biophysics
MD from Harvard Medical School
Residency at University Of Washington Affiliate Hospitals
Internal Medicine
Postdoctoral Fellowship at National Cancer Institute
Cancer Genetics
Postdoctoral Fellowship at Fred Hutchinson Cancer Research Center
Medical Genetics, Cancer Genetics

Certifications

Clinical Genetics
American Board of Medical Genetics

Professional Interests

  • Cancer predisposition syndromes
  • Mechanisms of genomic instability and use of genome sequencing in clinical medicine

Professional Statement

The overall goal of my laboratory is to understand the genetic basis of inherited susceptibility to cancer. At a basic level, we are interested in studying genes that normally control genomic stability and when disrupted lead to the instability seen in cancer cells including chromosome losses and gains or aneuploidy. Disruption of these control mechanisms have been found in a large percentage of human tumors and in individuals with a predisposition to specific cancers.

On a more translational level, we have carried out analyses of a variety of autosomal recessive cancer predisposition syndromes. Rothmund-Thomson Syndrome (RTS) is associated with a high incidence of osteosarcoma. We have determined that RTS patients who develop osteosarcoma carry deleterious mutations in the RECQL4 gene and we have identified that certain disease causing mutations are associated with mislocalization of the RECQL4 protein (Wang, JNCI, 2003; Burks, GENE, 2009). Most recently, we initiated a project in collaboration with the Human Genome Sequencing Center to develop a large-scale sequencing to identify the causative mutation or chromosome imbalance in families with unusual patterns of childhood cancer. The initial pipeline based on Sanger sequencing analyzed coding regions of 45 cancer-associated genes from genomic DNA of families that have multiple children with cancer or a child with more then one cancer diagnosis (Plon, Cancer Genetics, 2011). We are also using high density oligonucleotide arrays to identify regions of copy number variation in children with cancer and congenital anomalies or learning problems (Cheung, Pediatric Blood and Cancer, 2011). We have now expanded this study to perform whole exome and whole genome analyses of cohorts of families with similar cancer patterns, for example, families with predisposition to childhood acute lymphocytic leukemia and lymphoma. This is a highly collaborative project with collaborators including: Human Genome Sequencing Center, MD Anderson Cancer Center and the Department of Statistics at Rice University.

I am also involved in clinical research. We have investigated how physicians who do not have genetics training utilize genetic testing in their clinical practice to aid patients at increased risk of cancer (Plon, 2011; Dhar, 2011). We have now received NHGRI funding to launch a study on the impact of adding whole exome sequencing of tumor and blood into the care of newly diagnosed childhood cancer patients.

Selected Publications