I am a geneticist and bioinformatician with research interests in characterising genes and variants in cancers.
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. We collaborate with Dr Francesco Crea's group within the Open University, identifying long non-coding RNAs (lncRNA) 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 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 bioinformatics: R programming, data mining using publicly available online databases e.g. dbSNP, Ensembl, UCSC, GEO etc. Mainly gene expression tools.
Key words: cancer, breast cancer, genetics, gene expression, sequencing, molecular science, epidemiology, bioinformatics, data mining, DNA variants, RNA variants, DNA characterisation, RNA expression, protein expression.
Using genetic wet lab techniques, and bioinformatics tools and programming, we aim to develop biomarkers and treatment targets by:
|£55,251+||lead||Identification of functional variants in breast and other cancers with putative shared aetiology.||The Open University||PhD studentship stipend||2016 - 2021|
Epigenetics and non-coding RNAs as novel therapeutic targets for incurable neuroendocrine prostate cancer.
|The Open University||PhD studentship stipend||2016 - 2020|
|£965||co-investigator||Stephen Chandler, Dr Sushila Rigas||EMBL-EBI: Introduction to Next Generation Sequencing and Analysis of High Throughput Sequencing Data workshops attendance.||The Genetics Society||Training grant for PhD student||2018|
|£160||co-investigator||Stephen Chandler, Dr Sushila Rigas||Communicating your research workshop attendance.||The Genetics Society||Training grant for PhD student||2018|
|£50,000||lead (80%)||Dr Sushila Rigas and Professor Angela Cox (University of Sheffield)||Identification of regulatory DNA variants in apoptosis genes associated with breast cancer risk.||Yorkshire Cancer Research||Yorkshire Cancer Research||2012-2013|
|£100||lead||Dr Sushila Rigas||HEA accreditation application fee.||University of Sheffield||Postdoc CPD fund||2012|
|£200||lead||Dr Sushila Rigas||
British Society for Human Genetics Conference, 5-7 Sep 2011, Warwick University attendance.
|University of Sheffield||Oncology conference fund||2011|
|£21,529||lead||Dr Sushila Rigas and Professor Angela Cox (University of Sheffield)||The role of apoptosis genes in breast cancer susceptibility.||Wellcome Trust||Value in People award||2009|
I have taught on Undergraduate and Graduate degree programmes, and supervised MSc degrees and undergraduate final year projects. I also designed and delivered active learning into the curriculums.
We have developed a LINUX server machine with algorithms and data for breast, ovarian and prostate cancers analysis. We hope to analyse this data further and include data on more cancers.
We aim to work towards developing:
Professor Angela Cox, University of Sheffield, UK (member of the Breast Cancer Consortium, UK)
Dr Anita Grigoriadis, Kings College London, UK
LncRNA HORAS5 promotes taxane resistance in castration-resistant prostate cancer via a BCL2A1-dependent mechanism (2020-07)
Pucci, Perla; Venalainen, Erik; Alborelli, Ilaria; Quagliata, Luca; Hawkes, Cheryl; Mather, Rebecca; Romero, Ignacio A; Rigas, Sushila; Wang, Yuzhuo and Crea, Francesco
Epigenomics, 12(13) (pp. 1123-1138)
HORAS5 promotes cabazitaxel resistance in castration resistant prostate cancer via a BCL2A1-dependent survival mechanism (2019-10-01)
Pucci, P.; Venalainen, E.; Alborelli, I.; Quagliata, L.; Mather, R.; Rigas, S.; Romero, I.; Wang, Y. and Crea, F.
Annals of Oncology, 30(5) (v798)
T-type calcium channels drive the proliferation of androgen-receptor negative prostate cancer cells (2019-09-15)
Silvestri, Roberto; Pucci, Perla; Venalainen, Erik; Matheou, Chrysanthi; Mather, Rebecca; Chandler, Stephen; Aceto, Romina; Rigas, Sushila; Wang, Yuzhuo; Rietdorf, Katja; Bootman, Martin and Crea, Francesco
The Prostate, 79(13) (pp. 1580-1586)
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)
Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus (2016-04-01)
Camp, Nicola J.; Lin, Wei-Yu; Bigelow, Alex; Burghel, George J.; Mosbruger, Timothy L.; Parry, Marina A.; Waller, Rosalie G.; Rigas, Sushilaben H.; Tai, Pei-Yi; Berrett, Kristofer; Rajamanickam, Venkatesh; Cosby, Rachel; Brock, Ian W.; Jones, Brandt; Connley, Dan; Sargent, Robert; Wang, Guoying; Factor, Rachel E.; Bernard, Philip S.; Cannon-Albright, Lisa; Knight, Stacey; Abo, Ryan; Werner, Theresa L.; Reed, Malcolm W. R.; Gertz, Jason and Cox, Angela
Cancer Research, 76(7) (pp. 1916-1925)
Targeted DNA and RNA sequencing identifies breast cancer risk variants associated with differential expression of CASP8 and CFLAR/CASP10 (2014-10)
Camp, Nicola J.; Lin, Wei-Yu; Bigelow, Alex; Parry, Marina A.; Mosbruger, Tim; Burghel, George; Rajamanickam, Venkatesh; Rigas, Sushilaben H.; Cosby, Rachel; Connley, Dan; Wang, Guoying; George, Tresa; Waller, Rosalie; Cannon-Albright, Lisa A.; Jones, Brandt; Sargent, Rob; Reed, Malcolm W. R. and Cox, Angela
Cancer Research, 74, Article 3267(19 (Supp))
Fine-Mapping CASP8 Risk Variants in Breast Cancer (2012-01)
Camp, Nicola J.; Parry, Marina; Knight, Stacey; Abo, Ryan; Elliott, Graeme; Rigas, Sushilaben H.; Balasubramanian, Sabapathy P.; Reed, Malcolm W. R.; McBurney, Helen; Latif, Ayse; Newman, William G.; Cannon-Albright, Lisa A.; Evans, D. Gareth and Cox, Angela
Cancer Epidemiology, Biomarkers & Prevention, 21(1) (pp. 176-181)
A Breast Cancer Risk Haplotype in the Caspase-8 Gene (2009-04)
Shephard, Neil Duncan; Abo, Ryan; Rigas, Sushila Harkisandas; Frank, Bernd; Lin, Wei-Yu; Brock, Ian Wallace; Shippen, Adam; Balasubramanian, Sabapathy Prakash; Reed, Malcolm Walter Ronald; Bartram, Claus Rainer; Meindl, Alfons; Schmutzler, Rita Katharina; Engel, Christopher; Burwinkel, Barbara; Cannon-Albright, Lisa Anne; Allen-Brady, Kristina; Camp, Nicola Jane and Cox, Angela
Cancer Research, 69(7) (pp. 2724-2728)
The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study (2008-09)
Frank, Bernd; Rigas, Sushila H.; Bermejo, Justo Lorenzo; Wiestler, Miriam; Wagner, Kerstin; Hemminki, Kari; Reed, Malcolm W.; Sutter, Christian; Wappenschmidt, Barbara; Balasubramanian, Sabapathy P.; Meindl, Alfons; Kiechle, Marion; Bugert, Peter; Schmutzler, Rita K.; Bartram, Claus R.; Justenhoven, Christina; Ko, Yon-Dschun; Brüning, Thomas; Brauch, Hiltrud; Hamann, Ute; Pharoah, Paul P. D.; Dunning, Alison M.; Pooley, Karen A.; Easton, Douglas F.; Cox, Angela and Burwinkel, Barbara
Breast Cancer Research and Treatment, 111(1) (pp. 139-144)
Frequent p16-Independent Inactivation of p14ARF in Human Melanoma (2008-06-04)
Freedberg, Daniel E.; Rigas, Sushila H.; Russak, Julie; Gai, Weiming; Kaplow, Margarita; Osman, Iman; Turner, Faye; Randerson-Moor, Juliette A.; Houghton, Alan; Busam, Klaus; Bishop, D. Timothy; Bastian, Boris C.; Newton-Bishop, Julia A. and Polsky, David
Journal of the National Cancer Institute, 100(11) (pp. 784-795)
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents (2007-02)
Goldstein, Alisa M.; Chan, May; Harland, Mark; Hayward, Nicholas K.; Demenais, Florence; Bishop, D. Timothy; Azizi, Esther; Bergman, Wilma; Bianchi-Scarra, Giovanna; Bruno, William; Calista, Donata; Cannon Albright, Lisa A.; Chaudru, Valerie; Chompret, Agnes; Cuellar, Francisco; Elder, David E.; Ghiorzo, Paola; Gillanders, Elizabeth M.; Gruis, Nelleke A.; Hansson, Johan; Hogg, David; Holland, Elizabeth A.; Kanetsky, Peter A.; Kefford, Richard F.; Landi, Maria Teresa; Lang, Julie; Leachman, Sancy A.; MacKie, Rona M.; Magnusson, Veronica; Mann, Graham J.; Newton Bishop, Julia; Palmer, Jane M.; Puig, Susana; Puig-Butille, Joan A.; Stark, Mitchell; Tsao, Hensin; Tucker, Margaret A.; Whitaker, Linda; Yakobson, Emanuel; The Lund Melanoma Study Group, ; The Melanoma Genetics Consortium (GenoMEL), and Mistry, Sushila
Journal of Medical Genetics, 44(2) (pp. 99-106)
High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL (2006-10)
Goldstein, Alisa M.; Chan, May; Harland, Mark; Gillanders, Elizabeth M.; Hayward, Nicholas K.; Avril, Marie-Francoise; Azizi, Esther; Bianchi-Scarra, Giovanna; Bishop, D. Timothy; Bressac-de Paillerets, Brigitte; Bruno, William; Calista, Donato; Cannon Albright, Lisa A.; Demenais, Florence; Elder, David E.; Ghiorzo, Paola; Gruis, Nelleke A.; Hansson, Johan; Hogg, David; Holland, Elizabeth A.; Kanetsky, Peter A.; Kefford, Richard F.; Landi, Maria Teresa; Lang, Julie; Leachman, Sancy A.; MacKie, Rona M.; Magnusson, Veronica; Mann, Graham J.; Niendorf, Kristin; Newton Bishop, Julia; Palmer, Jane M.; Puig, Susana; Puig-Butille, Joan A.; de Snoo, Femke A.; Stark, Mitchell; Tsao, Hensin; Tucker, Margaret A.; Whitaker, Linda; Yakobson, Emanuel; The Lund Melanoma Study Group, ; The Melanoma Genetics Consortium (GenoMEL), and Mistry, Sushila
Cancer Research, 66(20) (pp. 9818-9828)
Prevalence of 9p21 Deletions in UK Melanoma Families (2005-11)
Mistry, Sushila H.; Taylor, Claire; Randerson-Moor, Juliette A.; Harland, Mark; Turner, Faye; Barrett, Jennifer H.; Whitaker, Linda; Jenkins, Robert B.; Knowles, Margaret A.; Newton Bishop, Julia A. and Bishop, D. Timothy
Genes, Chromosomes & Cancer, 44(3) (pp. 292-300)
A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees (2001-11-01)
Harland, Mark; Mistry, Sushila; Bishop, D. Timothy and Newton Bishop, Julia A.
Human Molecular Genetics, 10(23) (pp. 2679-2686)
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)
Association of the TNFRSF10A and TNFRSF10B Gene Region on Chromosome 8 with Breast Cancer Risk (2011-09-01)
Rigas, S.; Elliot, G.; Brock, I.; Parry, M.; Abo, R.; Knight, S.; Burghel, G.; Lin, W. Y.; Reed, M. W.; Camp, N. J. and Cox, A.
In : British Human Genetics Conference (Sep 2011) (S41-S41)
Assessing the functional role of caspase-8 gene variants in breast cancer (2010-05-18)
Rigas, S. H.; Parry, M.; Reed, M. W.; Camp, N. and Cox, A.
In : Breast Cancer Research 2010 (18 May 2010, London, UK)
Abstract 2844: Association of genetic variants in TNFRSF10B and breast cancer (2010-04)
Abo, Ryan P.; Parry, Marina; Rigas, Sushila H.; Cox, Angela and Camp, Nicola J.
In : Proceedings: AACR 101st Annual Meeting 2010 (17-21 Apr 2010, Washington, DC)
Abstract# 2556: An investigation of the role of the caspase-8 gene in prostate and colon cancer susceptibility using a SNP-tagging approach (2009)
Cox, Angela; Lin, Wei-Yu; Elliott, Graeme; Rigas, Sushila; Bishop, D Timothy; Cannon-Albright, Lisa; Cai, Zheng; Camp, Nicola; Neal, David; Donovan, Jenny and Hamdy, Freddie
In : Proc Am Assoc Cancer Res; 2009 (18-22 Apr 2009, Denver, Colorado)
The functional Role of CASP8 D302H and Other Apoptosis Gene Variants In Breast Cancer (2009)
Rigas, Sushila H.; Parry, Marina; Reed, Malcolm W. and Cox, Angela
In : British Human Genetics Conference (31 Aug - 2 Sep 2009, University of Warwick) (S108)
Role of CASP8 D302H and Other Apoptosis Gene Variants in Breast Cancer (2006-11-01)
Rigas, Sushila; Rafii, S; Shippen, AL; MacPherson, G; Balasubramanian, S; Reed, MW and Cox, A
In : Breast cancer research: the past and the future (1 Nov 2006, The Royal Society, London, UK)
Discovery of candidate long non-coding RNAs as biomarkers and treatment targets for prostate cancer
Chandler, Stephen; Gangadharannambiar, Priyadarsini; Crea, Francesco; Hirst, Mark; Cox, Angela and Rigas, Sushila
In : NEPC 2019. Treatment-emergent neuroendocrine prostate cancer: clinical relevance and molecular pathogenesis. (25 Jun 2019, The Open University, Milton Keynes, UK)
The Role Of p14ARF In Familial And Sporadic Melanoma (2004)
Mistry, Sushilaben Harkisandas
PhD thesis University of Leeds