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Dr Sushila Rigas

Profile summary

  • Central Academic Staff
  • Lecturer in Health Sciences
  • Faculty of Science, Technology, Engineering & Mathematics
  • School of Life, Health & Chemical Sciences
  • sushila.rigas

Professional biography

Dr Sushila Rigas

Lecturer in Health Sciences

I have worked on research projects characterising DNA variants in cancers and I now run a research group focused on identifying functional and regulatory DNA and RNA variants that may affect risk of breast cancer and other cancers with putative shared aetiology. We collaborate with Dr Francesco Crea's group within the Open University, identifying lnRNA variants putatively underlying risk of prostate and other cancers. I also collaborate with Professor Angela Cox (University of Sheffield) on the Identification of regulatory DNA variants in apoptosis genes associated with breast cancer risk (Yorkshire Cancer Research) and Professor Nicola J Camp (University of Utah, USA). My first post-doctoral position was in Professor Angela Cox's group where we were the first to identify that the Caspase 8 gene (Casp8) was associated with risk of breast cancer and subsequently identify CASP8 and other apoptosis DNA variants (Yorkshire Cancer Research, Cancer Research UK, Breast Cancer Campaign, and the Wellcome Trust). Whilst doing my PhD (The role of p14ARF in familial and sporadic melanoma, funded by Imperial Cancer Research now called Cancer Research UK) in Professor D Timothy Bishop and Professor Julia Newton-Bishops's group with Professor Margaret A Knowles (University of Leeds) I was the first to: comprehensively screen for deletions on chromosome 9p in melanoma families and in sporadic melanomas (at a time when it was difficult for detect deletions and loss of heterozygosity, LOH); to identify p14ARF [CDKN2A-ARF gene (exon 1β)] as a tumour suppressor gene; identify the MTAP to KIAA1 gene region as important in melanoma aetiology and a candidate locus for the location of a tumour suppressor gene; and contributed to being the first to identify that introns are important in disease with the detection of a splicing variant (IVS2-105) in melanoma families.


Tools: genetic (e.g. high throughput PCR, allelic discrimination, sequencing, MLPA, qPCR), molecular (e.g. cell culture, flow cytometry), and data mining using publically available online databases e.g. dbSNP, Ensembl, UCSC, GEO etc. Mainly gene expression tools.

Key words: cancer, breast cancer, genetics, molecular science, epidemiology, bioinformatics, data mining, DNA variants, RNA variants, DNA characterisation, RNA expression, protein expression.


Membership of societies

The Genetics Society

Participated with the Breast Cancer Association Consortium (BCAC, UK), North of England Genetic Epidemiology Group (NEGEG, UK), and the Melanoma Genetics Consortium (GenoMEL, UK)



Two research poster prizes 2009, Yorkshire Cancer Research Annual Science Meeting (Harrogate)

Research Team of the Year 2008, Awarded by Baroness Fookes of Plymouth DBE DL, patron of the Breast Cancer Campaign (House of Lords)

Sarah Jane Cross memorial prize, University of Wales, Aberystwyth 1997

Academic excellence letter, Biological Sciences, University of Wales, Aberystwyth 1997



Paolicchi, E., Fornaro. L., Landi. S., Rigas. S., Crea. F., (2017). EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types. Epigenomes, 1(3): 18.

Camp, N. J., Lin, W-Y., Bigelow, A., Burghel, G., Mosbruger, T., Parry, M., Waller, R., Rigas, S., Tai, P-Y., Berrett, K-C., Rajamanickam, V., Cosby, R., Brock, I., Jones, B., Connley, D., Sargent, R., Wang, G., Factor, R., Bernard, P., Cannon-Albright, L-A., Knight, S., Abo, R., Werner, T., Reed, M. WR.,  Gertz, J., Cox, A., (2016) Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus. Cancer Research 76(7):1916-25.

Camp NJ, Parry M, Knight S, Abo R, Elliott G, Rigas SH, Balasubramanian SP, Reed MWR, McBurney H, Latif A, Newman WG, Cannon-Albright LA, Evans DG, Cox A (2012) Fine-Mapping CASP8 Risk Variants in Breast Cancer. Cancer Epidemiology Biomarkers & Prevention 21: 176-181

Shephard ND, Abo R, Rigas SH, Frank B, Lin WY, Brock IW, Shippen A, Balasubramanian SP, Reed MWR, Bartram CR, Meindl A, Schmutzler RK, Engel C, Burwinkel B, Cannon-Albright LA, Allen-Brady K, Camp NJ, Cox A (2009) A Breast Cancer Risk Haplotype in the Caspase-8 Gene. Cancer Research 69: 2724-2728

Freedberg DE, Rigas SH, Russak J, Gai W, Kaplow M, Osman I, Turner F, Randerson-Moor JA, Houghton A, Busam K, Bishop DT, Bastian BC, Newton-Bishop JA, Polsky D (2008) Frequent p16-independent inactivation of p14(ARF) in human melanoma. Journal of the National Cancer Institute 100: 784-795

Frank B, Rigas SH, Bermejo JL, Wiestler M, Wagner K, Hemminki K, Reed MW, Sutter C, Wappenschmidt B, Balasubramanian SP, Meindl A, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Justenhoven C, Ko YD, Bruning T, Brauch H, Hamann U, Pharoah PPD, Dunning AM, Pooley KA, Easton DF, Cox A, Burwinkel B (2008) The CASP8-652 6N del promoter polymorphism and breast cancer risk: a multicenter study. Breast Cancer Research and Treatment 111: 139-144

Mistry SH, Taylor C, Randerson-Moor JA, Harland M, Turner F, Barrett JH, Whitaker L, Jenkins RB, Knowles MA, Bishop JAN, Bishop DT (2005) Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes & Cancer 44: 292-300

Harland M, Mistry S, Bishop DT, Bishop JAN (2001) A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Human Molecular Genetics 10: 2679-2686



PGC HEP, Postgraduate Certificate in Higher Education Practice, University of Bradford, 2016

PhD. School of Medicine, University of Leeds (Leeds Institute of Cancer and Pathology, Section of Epidemiology and Biostatisics), St James' Hospital, 2004

  • The role of p14ARF in familial and sporadic melanoma

BSc. (HONS) 1st, Genetics, Aberystwyth University, Wales, 2000

  • Familial hypercholesterolaemia, causitive role in atherosclerosis, other risk factors, and treatment


Research interests

Current Research Projects


PhD student: Stephen Chandler

Title: Identification of functional variants in breast and other cancers with putative shared aetiology.

Funding: The Open University

Supervisors: Dr Sushila Rigas, Dr Mark HirstDr Francesco CreaProfessor Angela Cox (University of Sheffield)


The role or function of DNA and RNA variants associated with cancers, as identified in genome wide association studies (GWAS) and candidate gene approaches, are largely unknown. There is evidence that they may be involved in the regulation of gene expression e.g. as expression quantitative trait locus (eQTL) or splicing quantitative trait locus (sQTL) variants, or involved in certain cellular pathways such as: apoptosis, signal transduction, angiogenesis, cell motility, communication and development, DNA repair and replication, metabolism, and endocrine or nervous system development. There are also multiple genes that are associated with breast, ovarian and prostate cancers which suggests there may be a shared aetiology. Most of the low-penetrance genes that are underlying these 'shared' cancers are largely unknown. This project aims to identify the candidate functional variants, and their putative role across 'shared cancers'.

See Stephen's description of his project at:


PhD student: Perla Pucci

Title:  Epigenetics and non-coding RNAs as novel therapeutic targets for incurable neuroendocrine prostate cancer.

Funding: The Open University

Supervisors: Dr Francesco Crea, Professor Ignacio (Nacho) Romero, Dr Sushila Rigas, Professor Yuzhuo Wang (BC Cancer Agency, University of British Columbia, Canada)


OU Undergraduate students:  Andrew Ainsworth, Emma Goodwin, Dani Tebo and Johanna Dornell.

Title: Identification of lncRNAs that drive liver cancer development and metastases using the cBioPortal database and R programming. 

Supervisors: Dr Sushila Rigas, Dr Francesco Crea, and Stephen Chandler.


Students: Priyadarshini Nambiar and Rupashree (Shelly) Choudhury

Title: Identification of variants in Neuromyelitis optica spectrum disorder (NMOSD), Neuromyelitis optica (NMO) and related disorders.

Supervisors: Dr Sushila Rigas, Dr Christopher HeathDr Francesco Crea.


Externally funded projects

Identification of regulatory DNA variants in apoptosis genes associated with breast cancer risk, Yorkshire Cancer Research, pump prime award, co-applicant 80%, 2012-13

The role of apoptosis genes in breast cancer susceptibility, Wellcome Trust Value in People award, principal investigator, 2009.


Teaching interests

I have taught on Undergraduate and Graduate degree programmes in the Medical School of Sheffield University, and in Clinical Sciences at the University of Bradford; designing and delivering active learning into the curriculums. I now use active learning strategies in the design and production of eLearning modules at the Open University:

SK299 Human biology (level 2, 60 credits)

SDK100 Science and health (level 1, 60 credits)


Teaching Qualifications

PGC HEP, Postgraduate Certificate in Higher Education Practice, University of Bradford, 2016

Fellow of the Higher education Academy (FHEA) from 2016

Associate Fellow of the Higher Education (AFHEA) from 2013


Impact and engagement

In collaboration with Professor Angela Cox (Breast Cancer Consortium, UK) we are currently aiming to work towards developing personalised screening tools (blood tests) and therapies, including identifying novel target therapies; by characterising DNA and RNA variants and identifying novel putative variants that are functional in the risk of breast cancer and other cancers with shared aetiology.


External collaborations


Professor Angela Cox, University of Sheffield, UK


Professor Nicola J. Camp, University of Utah, USA

Dr Luca Quagliata, University of Basel, Switzerland

Professor Yuzhuo Wang, BC Cancer Agency, University of British Columbia, Canada




EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types (2017-12-12)
Paolicchi, Elisa; Fornaro, Lorenzo; Landi, Stefano; Rigas, Sushilaben and Crea, Francesco
Epigenomes, 1, Article 18(3)
Identification of candidate genes that may function in ER- breast cancer (2018)
Chandler, Stephen; Crea, Francesco; Hirst, Mark; Cox, Angela and Rigas, Sushila
In : BACR Conference: Response and Resistance in Cancer Therapy (10-12 Sep 2018, University of Kent, Canterbury)
Identification of putative functional genes in breast and other cancers with potentially shared aetiology (2017-11-23)
Chandler, Stephen; Crea, Francesco; Hirst, Mark; Cox, Angela and Rigas, Sushilaben
In : The Human Genome in Healthcare (23-24 Nov 2017, The Royal Society, London, UK)
Identification of a long non-coding RNA that mediates response to therapy in castration-resistant prostate cancer (2017)
Pucci, Perla; Venalainen, Erik; Mather, Rebecca; Xue, Hui; Rigas, Sushila; Romero, Ignacio A; Wang, Yuzho and Crea, Francesco
In : 3rd International Cancer Symposium (25-27 Sep 2017, Lyon, France)