Overview
Background
Our work on human pigmentation genetics has allowed understanding of normal variation in this physical trait and the associated genotypic risk for skin cancer. The genes that determine an individual's skin phototype and the cellular mechanisms that result in the tanning response of melanocytes after UV-exposure of the skin are actively being investigated.
Assoc. Prof Rick Sturm is group leader in the Dermatology Research Centre within the Frazer Institue.
Availability
- Associate Professor Rick Sturm is:
- Available for supervision
- Media expert
Fields of research
Research interests
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Skin, hair, eye colour and cancer � MC1R/OCA2, the genetic links
Pigmentary traits such as red hair and fair skin, moles, eye colour, lack of tanning ability and propensity to freckle have been identified as genetic risk factors for skin cancer when combined with the environmental risk factor of high ultraviolet exposure. The major areas of investigation are the role of the OCA2 gene in directing eye colour, and the role of human melanocortin-1 receptor (MC1R) gene variants in directing skin phototype and response to UV-induced ligand binding and receptor activation. The MC1R coding sequence is highly polymorphic in human populations and we have examined MC1R variant allele frequencies in the general community as well as a collection of adolescent dizygotic and monozygotic twins with defined pigmentation characteristics. Subscription required to access this paper Variant allele frequencies have also been determined in several case-control studies of sporadic melanoma, basal cell carcinoma and squamous cell carcinoma, and in familial melanoma kindreds collected within Australia. These studies have shown that three MC1R alleles � Arg151Cys, Arg160Trp and Asp294His � were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in CDKN2A mutation carriers. There is a significant MC1R variant allele heterozygote carrier effect on skin phototype and skin cancer risk, which indicates that these alleles do not behave in a strictly recessive manner.
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Characterisation of melanoblast stem cell differentiation
The process of development and differentiation of the melanocytic cell lineage is being investigated using primary melanoblast and melanocyte cells cultured in vitro from human skin. This will provide information to allow the genes and processes involved in melanoma tumour formation and metastasis to be examined. These studies focus on the identification and molecular characterisation of the genes involved in melanocyte function.
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Mechanisms of melanoma metastasis
Expression of the �3 integrin gene in melanoma in situ has been found to be the single most important marker of metastasis yet discovered. Experiments to investigate the effects of this expression has involved the use of Adenoviral gene transduction of the �3 integrin subunit into radial growth phase (RGP) melanoma cell lines and differential gene screening. A skin reconstruction model was used to assay the invasivness of RGP melanoma cells after ectopic �3 integrin expression and these studies have discovered induction of the anti-adhesive protein osteonectin is required for melanoma metastasis.
Works
Search Professor Rick Sturm’s works on UQ eSpace
2019
Journal Article
IRF4 rs12203592*T/T genotype is associated with nodular melanoma
Rayner, Jenna E., McMeniman, Erin K., Duffy, David L., De'Ambrosis, Brian, Smithers, B Mark, Jagirdar, Kasturee, Lee, Katie J., Soyer, H Peter and Sturm, Richard A. (2019). IRF4 rs12203592*T/T genotype is associated with nodular melanoma. Melanoma Research, 29 (4), 445-446. doi: 10.1097/CMR.0000000000000596
2019
Journal Article
Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients
Rayner, J. E., McMeniman, E. K., Duffy, D. L., De'Ambrosis, B., Smithers, B. M., Jagirdar, K., Lee, K. J., Soyer, H. P. and Sturm, R. A. (2019). Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients. Journal of the European Academy of Dermatology and Venereology, 33 (6) jdv.15446, 1076-1083. doi: 10.1111/jdv.15446
2019
Journal Article
High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk
Duffy, D. L., Lee, K. J., Jagirdar, K., Pflugfelder, A., Stark, M. S., McMeniman, E. K., Soyer, H. P. and Sturm, R. A. (2019). High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk. British Journal of Dermatology, 181 (5) bjd.17833, 1009-1016. doi: 10.1111/bjd.17833
2019
Journal Article
Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2019). Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 10 (1) 299, 299. doi: 10.1038/s41467-018-08078-w
2019
Conference Publication
IRF4 rs12203592*T/T genotype is associated with nodular melanoma
Rayner, Jenna E., McMeniman, Erin K., Duffy, David L., De'Ambrosis, Brian, Smithers, B Mark, Jagirdar, Kasturee, Lee, Katie J., Soyer, H. Peter and Sturm, Richard A. (2019). IRF4 rs12203592*T/T genotype is associated with nodular melanoma. ASDR Annual Scientific Meeting 2019, Melbourne, VIC, Australia, 16-17 May 2019.
2019
Conference Publication
The Importance of the Gene Locus DHCR24 for the Overall Survival of Melanoma Patients - Results of a genome-wide Association Study (GWAS)
Pflugfelder, A., Yong, X. L. H., Jagirdar, K., Eigentler, T., Soyer, H. P., Sturm, R. A., Garbe, C. and Duffy, D. L. (2019). The Importance of the Gene Locus DHCR24 for the Overall Survival of Melanoma Patients - Results of a genome-wide Association Study (GWAS). Deutschen Hautkrebskongresses (ADO–Jahrestagung), Ludwigshafen, Germany, 11–14 September 2019. Hoboken, NJ United States: Wiley-Blackwell.
2018
Journal Article
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2018). Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 9 (1) 4774, 4774. doi: 10.1038/s41467-018-06649-5
2018
Journal Article
Frontiers in pigment cell and melanoma research
Filipp, Fabian V., Birlea, Stanca, Bosenberg, Marcus W., Brash, Douglas, Cassidy, Pamela B., Chen, Suzie, D'Orazio, John A., Fujita, Mayumi, Goh, Boon-Kee, Herlyn, Meenhard, Indra, Arup K., Larue, Lionel, Leachman, Sancy A., Le Poole, Caroline, Liu-Smith, Feng, Manga, Prashiela, Montoliu, Lluis, Norris, David A., Shellman, Yiqun, Smalley, Keiran S. M., Spritz, Richard A., Sturm, Richard A., Swetter, Susan M., Terzian, Tamara, Wakamatsu, Kazumasa, Weber, Jeffrey S. and Box, Neil F. (2018). Frontiers in pigment cell and melanoma research. Pigment Cell and Melanoma Research, 31 (6), 728-735. doi: 10.1111/pcmr.12728
2018
Journal Article
‘Mind your Moles’ study: protocol of a prospective cohort study of melanocytic naevi
Koh, Uyen, Janda, Monika, Aitken, Joanne F., Duffy, David L., Menzies, Scott, Sturm, Richard A., Schaider, Helmut, Betz-Stablein, Brigid, Prow, Tarl, Soyer, H. Peter and Green, Adele C. (2018). ‘Mind your Moles’ study: protocol of a prospective cohort study of melanocytic naevi. BMJ Open, 8 (9) e025857, e025857. doi: 10.1136/bmjopen-2018-025857
2018
Journal Article
Whole-exome sequencing of acquired nevi identifies mechanisms for development and maintenance of benign neoplasms (vol 138, pg 1636, 2018)
Stark, Mitchell S., Tan, Jean-Marie, Tom, Lisa, Jagirdar, Kasturee, Lambie, Duncan, Schaider, Helmut, Soyer, H. Peter and Sturm, Richard A. (2018). Whole-exome sequencing of acquired nevi identifies mechanisms for development and maintenance of benign neoplasms (vol 138, pg 1636, 2018). Journal of Investigative Dermatology, 138 (9), 2085-2085. doi: 10.1016/j.jid.2018.06.174
2018
Journal Article
Four! Drivers of melanoma differentiation-when to use iron
Fane, Mitchell E. and Sturm, Richard A. (2018). Four! Drivers of melanoma differentiation-when to use iron. Pigment Cell and Melanoma Research, 31 (6), 658-660. doi: 10.1111/pcmr.12725
2018
Journal Article
Endogenous replication stress marks melanomas sensitive to CHEK1 inhibitors in vivo
Oo, Zay Yar, Stevenson, Alexander J., Proctor, Martina A., Daignault, Sheena M., Walpole, Sebastian, Lanagan, Catherine, Chen, James, Skalamera, Dubravka, Spoerri, Loredana, Ainger, Stephen, Sturm, Richard A, Haass, Nikolas K and Gabrielli, Brian (2018). Endogenous replication stress marks melanomas sensitive to CHEK1 inhibitors in vivo. Clinical Cancer Research, 24 (12), 2901-2912. doi: 10.1158/1078-0432.CCR-17-2701
2018
Journal Article
BRN2, a POUerful driver of melanoma phenotype switching and metastasis
Fane, Mitchell E., Chhabra, Yash, Smith, Aaron G. and Sturm, Richard A. (2018). BRN2, a POUerful driver of melanoma phenotype switching and metastasis. Pigment Cell and Melanoma Research, 32 (1), 9-24. doi: 10.1111/pcmr.12710
2018
Journal Article
Focal regression of a primary melanoma, fading lentigines, and poliosis in metastatic melanoma treated with anti-PD-1
Thomas, S, Laino, A, Sturm, R, Nufer, K, Lambie, D, Shepherd, B, Atkinson, V, Adams, L, Soyer, H P and Schaider, H (2018). Focal regression of a primary melanoma, fading lentigines, and poliosis in metastatic melanoma treated with anti-PD-1. Journal of the European Academy of Dermatology and Venereology : JEADV, 32 (5), e176-e177. doi: 10.1111/jdv.14678
2018
Journal Article
Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study
Laino, A. M., Berry, E. G., Jagirdar, K., Lee, K. J., Duffy, D. L., Soyer, H. P. and Sturm, R. A. (2018). Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study. British Journal of Dermatology, 178 (5), 1119-1127. doi: 10.1111/bjd.16323
2018
Journal Article
Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma
McInerney-Leo, A. M., Wheeler, L., Sturm, R. A., Tan, J. M., Harris, J. E., Anderson, L., Jagirdar, K., Brown, M. A., Leo, P. J., Soyer, H. P. and Duncan, E. L. (2018). Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. British Journal of Dermatology, 178 (4), e263-e264. doi: 10.1111/bjd.16275
2018
Journal Article
Towards the full spectrum of genes for human skin colour
Sturm, Richard A. and Duffy, David L. (2018). Towards the full spectrum of genes for human skin colour. Pigment Cell and Melanoma Research, 31 (4), 457-458. doi: 10.1111/pcmr.12691
2018
Journal Article
Whole-exome sequencing of acquired nevi identifies mechanisms for development and maintenance of benign neoplasms
Stark, Mitchell S., Tan, Jean-Marie, Tom, Lisa, Jagirdar, Kasturee, Lambie, Duncan, Schaider, Helmut, Soyer, H. Peter and Sturm, Richard A. (2018). Whole-exome sequencing of acquired nevi identifies mechanisms for development and maintenance of benign neoplasms. Journal of Investigative Dermatology, 138 (7), 1636-1644. doi: 10.1016/j.jid.2018.02.012
2018
Conference Publication
Escape form adaptive drug tolerance through OGT and TET1 mediated H3K4me3 remodeling in MAPKi-resistant melanoma
Menon, D. Ravindran, Hammerlindl, H., Emran, A., Torrano, J., Hammerlindl, S., Zhang, G., Krause, L., Somasundaram, R., Sturm, R., Haass, N. K., Flaherty, K., Herlyn, M. and Schaider, H. (2018). Escape form adaptive drug tolerance through OGT and TET1 mediated H3K4me3 remodeling in MAPKi-resistant melanoma. International Investigative Dermatology (IID) Meeting, Orlando, Fl, United States, 16-19 May 2018. London, United Kingdom: Nature Publishing Group. doi: 10.1016/j.jid.2018.03.1252
2018
Conference Publication
Phenotypic and genotypic analysis of amelanotic melanoma patients drawn from a Queensland case-control study
Rayner, J., Duffy, D., McMeniman, E. K., Jagirdar, K., Lee, K., Soyer, H. P. and Sturm, R. A. (2018). Phenotypic and genotypic analysis of amelanotic melanoma patients drawn from a Queensland case-control study. Australasian College of Dermatologists, 51st Annual Scientific Meeting, Gold Coast, Australia, 19–22 May 2018. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/ajd.10_12815
Funding
Past funding
Supervision
Availability
- Associate Professor Rick Sturm is:
- Available for supervision
Before you email them, read our advice on how to contact a supervisor.
Supervision history
Completed supervision
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2009
Doctor Philosophy
The molecular mechanism of MC1R association with skin cancer risk phenotypes
Principal Advisor
Other advisors: Professor Jennifer Stow
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2008
Doctor Philosophy
A Melanocyte-Keratinocyte Coculture Model to Study MC1R Dependent Pigmentation Responses
Principal Advisor
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2006
Doctor Philosophy
MOLECULAR CHANGES DEFINING THE TRANSITION FROM RADIAL TO VERTICAL GROWTH PHASE IN MELANOMA
Principal Advisor
Other advisors: Professor Jennifer Stow
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2004
Doctor Philosophy
MODELS OF HUMAN NEURAL CREST CELL DIFFERENTIATION IN VITRO
Principal Advisor
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2020
Master Philosophy
Gene Polymorphisms Associated with Amelanotic/Hypopigmented and Nodular Melanoma
Associate Advisor
Other advisors: Professor Peter Soyer
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2020
Master Philosophy
The role of SETDB1/2-mediated H3K9me3 in drug-tolerant cancer
Associate Advisor
Other advisors: Associate Professor Helmut Schaider
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2020
Doctor Philosophy
Genotypic and phenotypic correlations in a cohort of patients with multiple primary melanoma
Associate Advisor
Other advisors: Professor Peter Soyer
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2018
Master Philosophy
The correlation of skin colour, skin reflectance, freckling, MC1R, TYR, IRF-4 and TPCN2 genotypes with naevus pattern within a case-control study of melanoma
Associate Advisor
Other advisors: Associate Professor Helmut Schaider
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2018
Master Philosophy
Dermoscopic and molecular correlation of melanocytic naevi
Associate Advisor
Other advisors: Dr Mitchell Stark, Professor Peter Soyer
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2018
Doctor Philosophy
Phenotypes and Genotypes of Melanoma Patients
Associate Advisor
Other advisors: Professor Peter Soyer
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2017
Doctor Philosophy
Investigating the role of the MITF-BRN2 expression axis in metastatic melanoma
Associate Advisor
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2016
Doctor Philosophy
Investigating the role of NR4A genes in response to cellular stress
Associate Advisor
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2014
Doctor Philosophy
Role of IRF6 in epithelial cell-mediated host defence and inflammation
Associate Advisor
Other advisors: Professor Matt Sweet
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2004
Doctor Philosophy
STRUCTURE-FUNCTION ANALYSIS OF NUCLEAR HORMONE RECEPTORS NUR77 AND NOR I: EVIDENCE FOR A ROLE IN MUSCLE
Associate Advisor
Media
Enquiries
Contact Associate Professor Rick Sturm directly for media enquiries about:
- Basal cell carcinoma
- Carcinoma
- Eye colour
- Genetics
- Hair colour
- Human pigmentation
- Melanoma
- Pigmentation - human skin
- Skin cancer
- Skin colour
- Skin tanning
- Squamous cell carcinoma
- Sun cancer
- Sun damage
- Sun exposure
- Tanning - of skin
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