I am a board-certified clinical molecular geneticist with a special interest in cancer genetics. As Director of the Diagnostic Molecular Genetics Laboratory at Memorial Sloan Kettering, I am responsible for supervising the molecular diagnostic testing for inherited disorders — in particular the inherited forms of breast, ovarian, colorectal, and other types of cancers. The identification of genetic alterations enables better medical management options that can reduce risk through prevention or early detection. I have led the development and implementation of various new diagnostic genetic tests, including the next-generation sequencing tool MSK-IMPACT, a comprehensive assay for cancer predisposition testing. I am responsible for the molecular oncology tests used for screening of cancer predisposition syndromes, such as Lynch syndrome, and for patient selection in clinical trials. I also oversee strategic planning for the laboratory’s technologies, instrumentation, staffing, budget, and regulatory issues.
With the availability of high-throughput DNA sequencing technologies, our ability to detect DNA sequence variants has greatly surpassed the ability to interpret their clinical impact. National and international projects have started to address the complexity of interpreting genetic variants. Currently, I am a cancer genetics expert participating in the cancer working group for ClinicGen, one of the leading efforts. I am also a committee member on The BRCA Challenge project organized by UNESCO. We aim to share the knowledge on genetic variations and develop a framework for evaluating them
As Associate Director of the Molecular Genetics Pathology (MGP) fellowship at MSK, I teach MGP fellows in this ACGME-accredited training program and provide the appropriate academic environment for their growth.
My research has focused on interpretation, classification, and characterization of the sequence variants in cancer predisposition genes such as BRCA1, BRCA2, MLH1, MSH2, MSH6, and CDH1. We use molecular biology, molecular genetics, and biochemical approaches to study how these sequence variants alter the function of the proteins sufficiently to predispose cells to cancer development. I lead ongoing research projects to investigate sequence variants related to hereditary breast, ovarian, gastric, and colon cancers. These research results will provide important information for improved patient management.
- Clinical Expertise: Diagnostic Molecular Genetics
- Languages Spoken: English
- Education: MD, Peking University (China); PhD, The Johns Hopkins University; MS (Bioinformatics), The Johns Hopkins University
- Fellowships: Memorial Sloan Kettering Cancer Center
- Board Certifications: Clinical Molecular Genetics
Research is integral to our mission at Memorial Sloan Kettering, and clinical trials help us discover better forms of patient care and treatment. For you, this could mean access to a new therapy or therapy combination. Click to see a list of the trials I’m currently leading.
Clinical Trials Co-Investigated by Liying Zhang
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