The Functional Genetics Laboratory investigates how genetic variants in noncoding regions of the genome contribute to cancer risk and progression. Until recently, the genetic basis of cancer has only been examined in coding regions, which accounts for less than 2% of the human genome. However, it is now apparent that noncoding regions are littered with functional elements such as transcriptional enhancers and long non-coding RNAs. The laboratory focus’s on how inherited variants identified through genome wide association studies (GWAS) and cancer specific mutations identified through whole gene sequencing (WGS) can alter these non-coding elements to promote the development of cancer. The ultimate aim is to use genetics to pinpoint the key genes and pathways implicated in the development of cancer to identify new therapeutic opportunities.
Team Head: Associate Professor Juliet French
- Kristine Hillman, Research Assistant
- Susanne Kaufmann, Research Assistant
- Mahdi Moradi Marjaneh, Research Officer
- Nehal Abdou, PhD Student
Betts JA, Moradi MM, Al-Ejeh F….Edwards* SL, French* JD. 2017. Long non-coding RNAs, CUPID1 and CUPID2, mediate breast cancer risk at 11q13 by modulating response to DNA damage. American Journal of Human Genetics. PMID: 28777932
Michailidou K et al. 2017. Association analyses identifies 65 new breast cancer risk loci. Nature. (in press)
Dunning AM*, Michailidou K*, Kuchenbaecker*, Thompson D*, French JD*, Beesley J* et al. 2016. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nature Genetics. PMID: 26928228
Ghoussaini, M, French JD* et al. 2016. Evidence that the 5p12 variant rs10941679 confers susceptibility to estrogen receptor-positive breast cancer through FGF10 and MRPS30 regulation. American Journal of Human Genetics. PMID: 27640304
Cheng TH et al. 2016. Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics. PMID: 27135401
Lawrenson K et al. 2016. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nature Communications. PMID: 27601076
French JD et al. 2016. Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer. Oncotarget. PMID: 26840454
Vincente* CT….. French JD*, Ferreira MA*. 2015. Long-range modulation of PAG1 expression by 8q21 allergy risk variants. American Journal of Human Genetics. PMID: 26211970
Glubb DM…. French, JD. 2015. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. American Journal of Human Genetics. PMID: 25529635
French JD et al, Functional variants at the 11q13 risk locus for breast cancer regulate Cyclin D1 expression through long-range enhancers. American Journal of Human Genetics. 2013
Edwards* SL, Beesley* J, French* JD, Dunning* AM. 2013. Beyond GWASs: illuminating the dark road from association to function. American Journal of Human Genetics. PMID: 24210251
- Identifying new long-noncoding RNAs involved in breast cancer development
- Identification and evaluation of new breast cancer genes.
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