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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Marilyn M. Li, M.D.

Marilyn M. Li, M.D.

Professor of Molecular and Human Genetics

Other Positions

Director, Cancer Genetics Laboratory


M.D., Tongji Medical College, Huazhong University of Science and Technology, 1983
Resident, Pediatrics, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, 1987
Fellow, Clinical Cytogenetics and Clinical Molecular Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, 1996

Research Interests

My primary research interest is in cancer genetics. One of the major projects in my lab is clinical application of microarray and next generation sequencing technologies in cancer research and diagnosis. Genetic alterations are important biological markers for cancer diagnosis and prognosis, disease classification, risk stratification, and treatment selection.

Microarray-based cytogenetic technology offers high resolution, highly accurate whole genome evaluations of tumor tissues independent of cell division. Next generation sequencing (NGS) permits deep sequencing of hundreds of mutations concurrently, which allows the detection of multiple clinically actionable mutations at the same time with high sensitivity and specificity. We have studied hundreds of cancer genomes using custom designed cancer-specific arrays and custom-designed cancer-specific next generation sequencing panels. Our experience demonstrated that these state of the art technologies detect many previously unknown or unrecognized genomic alterations that can be used for cancer risk stratification, disease follow-up, and therapeutic selection. Some of these genomic aberrations can also be therapeutic targets. In addition, our lab is in collaboration with multiple labs in the Cancer Cytogenomics Microarray Consortium to establish a diagnostic algorithm and practical guidelines for the clinical assessment of genomic copy number alterations and mutations in cancer using microarray and next generation sequencing based testing. The data generated from these studies will help to build a cancer microarray/NGS database. This will facilitate the development and utilization of microarray and NGS based technologies for high-quality, reliable cancer genomic testing in CLIA certified diagnostic laboratories.

Another research project in my lab studies common leukemia- and lymphoma-associated genetic aberrations in healthy individuals. We have detected a set of common leukemia- and lymphoma-associated genetic rearrangements at low levels in the peripheral blood samples of healthy human subjects. Some of these genetic alterations have not been previously reported in healthy individuals. The high frequency of normal carriers of common leukemia- and lymphoma-associated genetic aberrations suggests that these mutations are not themselves sufficient for malignant transformation. However, clinical data have shown that some carriers may have higher risk of developing cancer. We are currently working on the development of in vivo study systems using Zebrafish to understand tumorigenesis and to identify risk factors that promote such process.

My lab is also interested in studying chromosome microdeletion syndromes. We have collected a cohort of patients with microdeletions of 7q11.2 and different phenotypic presentations. We have designed a custom array focused on the Williams syndrome chromosomal region to delineate the size and the breakpoints of the deletions. We hope the study will help us to better comprehend the genotype-phenotype correlation of the disease.

Selected Publications

  1. Cooley LD, Lebo M, Li MM, Slovak ML, Wolff DJ; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee (2013). American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. Genet. Med. 15(6): 484-94. PubMed PMID: 23619274
  2. Li MM, Ewton AA, Smith JL (2013). Using Cytogenetic Rearrangements for Cancer Prognosis and Treatment (Pharmacogenetics). Curr. Genet. Med. Rep. 1: 99-112.
  3. Ledet EM, Hu X, Sartor O, Rayford W, Li M, Mandal D (2012). Characterization of germline copy number variation in high-risk African American families with prostate cancer. Prostate 73(6): 614-23. PubMed PMID: 23060098
  4. Marilyn M. Li, Ankita Patel, and Xiaofeng Hu (2012). Clinical Applications of Microarrays in Cancer. In Hu, Peter; Hegde, Madhuri; Lennon, Patrick Alan (Eds.), Modern Clinical Molecular Techniques (1st ed). pp 307-322. New York: Springer
  5. Song J, Mercer D, Hu X, Liu H, Li MM (2011). Common leukemia- and lymphoma-associated genetic aberrations in healthy individuals. J. Mol. Diagn. 13(2): 213-9. PubMed PMID: 21354057
  6. Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, Andersson HC, Narumanchi TM, Wang Y, Martinez JE, Wu BL*, Li P*, Li MM*, Chen TJ*, Fan YS* (2010). Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J. Mol. Diagn. 12(2): 204-12. (*co-senior authors) PubMed PMID: 20093387
  7. Freeman CE, Mercer DD, Ye Y, Van Brunt J 3rd, Li MM (2009). Cytogenetic and molecular characterization of complex three-way translocations in acute promyelocytic leukemia. J. Peking Univ. 41(4): 271-4. PubMed PMID: 19727242
  8. Li MM, Nimmakayalu MA, Mercer D, Andersson HC, Emanuel BS (2008). Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays. Am. J. Med. Genet. A. 146(3): 368-75. PubMed PMID: 18203177
  9. Techakittiroj C, Jackson K, Andersson H, Dvorak C, Li MM (2006). A female infant with hypotonia, developmental delay, transitional hearing loss and 22q13.1 deletion. World J. Pediatr. 2(4): 245-9.
  10. Kozon LK, Wesley DL, Van Brunt J 3rd, Li MM (2005). A novel interstitial deletion on the long arm of chromosome 16 in a patient with chronic myelomonocytic leukemia. Cancer Genet. Cytogenet. 162(1): 92-4. PubMed PMID: 16157209

Contact Information

Marilyn M. Li, M.D.
Director, Cancer Genetics Laboratory
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, MS NAB 2015
Houston, TX, 77030, U.S.A.

Phone: 713-798-7427

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