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Joint Research Seminar (21 Jul 2014)



Joint Research Seminar

Genomics Strategic Research Theme
Centre for Genomic Sciences

Novel Somatic and Germline Mutations in
Intracranial Germ Cell Tumors

Dr Ching LAU

Associate Professor of Pediatrics
Baylor College of Medicine (BCM)

21 July 2014 (Mon)
10:30 – 11:30 am

Seminar Room 1A
G/F, HKJC Building for Interdisciplinary Research

5 Sassoon Road, Pokfulam, HK


Intracranial germ cell tumors (IGCTs) are rare and biologically diverse tumors affecting mainly male adolescents with the highest incidence in East-Asian countries. As yet, there are no clues for the puzzle of onset during puberty, geographic and gender discrepancy in incidence of IGCTs. Here we report the analysis of 62 cases by whole-exome sequencing, deep targeted sequencing and SNP array. We identified novel recurrent somatic mutations in KIT and 8 additional genes in KIT/RAS pathway that have not been previously associated with IGCTs: downstream mediators of KIT including KRAS, NRAS, MTOR, AKT1 and its negative regulator CBL.

We showed frequent AKT1 focal amplification (19%), CBL mutation (11%) and deletion (46%). Moreover, we identified loss-of-function mutations in BCORL1 (10%), a transcriptional corepressor and tumor suppressor. Furthermore, we report for the first time, significant enrichment of novel and rare germline variants in JMJD1C among Japanese IGCT patients and identified a risk allele in KDM5D. JMJD1C is a histone demethylase and coactivator of androgen receptor. The truncating mutations in BCORL1 and variants in JMJD1C may alter hormone-mediated transcription through changing the binding selectivity of nuclear receptor. Together, these findings could potentially explain the highest incidence of IGCTs associated with puberty, Asian countries and male gender; as well as suggest promising therapeutic targets.
About the Speaker: 

Dr Lau graduated from Rice University with a BA in Chemistry and subsequently received his PhD in Pharmacology and MD from Harvard Medical School. He was a post-doctoral fellow in Cancer Genetics at Dana-Farber Cancer Center. He completed his Pediatrics Residency and Pediatric Hematology-Oncology Fellowship at Texas Children’s Hospital, Baylor College of Medicine. He is currently the Associate Director of the Pediatric Neuro-oncology Program and the Director of the Cancer Genomics Program at the Texas Children’s Cancer Center. His research interests include the molecular biology of pediatric brain and bone tumors and the clinical applications of genomic technologies. He is experienced in leading NCI-funded multi-disciplinary teams of research. Dr Lau has published more than 100 papers in prestigious peer-reviewed journals on cancer genetics and genomics.


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