Dr Laura Thomas

BSc, PhD

Research Associate

Yr Ysgol Meddygaeth

: thomasl41@cardiff.ac.uk
: +44 (0)29 2251 0025 / (0)29 2068 7859
: 1F.08, 1st floor, Adeilad Geneteg Canser, Ysbyty Athrofaol Cymru, Parc y Mynydd Bychan, Caerdydd, CF14 4XN

: Sylwebydd y cyfryngau
: Ar gael fel goruchwyliwr ôl-raddedig

As part of the Inherited Tumour Syndrome Research Group, I have a particular interest in intestinal polyposis syndromes, specifically polyposis of the duodenum and colorectum. The aim of my research is to develop new methods and techniques for mutation detection and to characterise inherited and somatic genetic mechanisms in patients with inherited tumour syndromes.

2023

West, H. D. et al. 2023. Targeted genomic sequencing of TSC1 and TSC2 reveals causal variants in individuals for whom previous genetic testing for tuberous sclerosis complex was normal. Human Mutation: Variation, Informatics and Disease 2023, article number: 4899372. (10.1155/2023/4899372)

2022

Robinson, P. S. et al. 2022. Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells. Nature Communications 13(1), article number: 3949. (10.1038/s41467-022-31341-0)

2020

Short, E. et al. 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28(1), pp. 118-121. (10.1038/s41431-019-0486-2)

2018

Hurley, J. J. et al. 2018. The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. Gastrointestinal Endoscopy 88(4), pp. 665-673. (10.1016/j.gie.2018.04.2347)
Tye, C., Thomas, L. E., Sampson, J. R., Lewis, J., O'Callaghan, F., Yates, J. R. and Bolton, P. F. 2018. Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?. Epilepsia Open 3(2), pp. 276-280. (10.1002/epi4.12111)

2017

Thomas, L. E. et al. 2017. Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. Clinical Cancer Research 23(21), pp. 6721-6732. (10.1158/1078-0432.CCR-17-1269)

2015

Short, E., Thomas, L. E., Hurley, J., Jose, S. and Sampson, J. R. 2015. Inherited predisposition to colorectal cancer: towards a more complete picture. Journal of Medical Genetics 52, pp. 791-796. (10.1136/jmedgenet-2015-103298)
Rad, E., Dodd, K. M., Thomas, L. E., Upadhyaya, M. and Tee, A. 2015. STAT3 and HIF1 signaling drives oncogenic cellular phenotypes in malignant peripheral nerve sheath tumors. Molecular Cancer Research 13(7), pp. 1149. (10.1158/1541-7786.MCR-14-0182)
Thomas, L. E. et al. 2015. Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours. Human Genomics 9(1), article number: 3. (10.1186/s40246-015-0025-3)

2012

Thomas, L., Richards, M., Mort, M. E., Dunlop, E. A., Cooper, D. N. and Upadhyaya, M. 2012. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Human Mutation 33(12), pp. 1687-1696. (10.1002/humu.22162)
Thomas, L., Mautner, V., Cooper, D. N. and Upadhyaya, M. 2012. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Human Genomics 6, article number: 18. (10.1186/1479-7364-6-18)
Upadhyaya, M. et al. 2012. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis. Human Mutation 33(4), pp. 763-776. (10.1002/humu.22044)
Thomas, L. et al. 2012. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics 20(4), pp. 411-419. (10.1038/ejhg.2011.207)

2011

Laycock-Van spyk, S. et al. 2011. Identification of five novel SPRED1 germline mutations in Legius syndrome [Letter]. Clinical Genetics 80(1), pp. 93-96. (10.1111/j.1399-0004.2010.01618.x)
Thomas, L. 2011. Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1).. PhD Thesis, Cardiff University.

2010

Thomas, L., Kluwe, L., Chuzhanova, N., Mautner, V. and Upadhyaya, M. 2010. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics 11(4), pp. 391-400. (10.1007/s10048-010-0240-y)

Current research students:

Emma Short, PhD (2013-2018)
- 'Genetic mechanisms in polyposis of the bowel'

Elena Meuser, PhD (2015-2018)
- 'Molecular mechanisms of tumorigenesis in familial polyposis syndromes'

Beth Bradford, Undergraduate placement student (2016-2017)
- 'Genetic mechanisms in colorectal and duodenal polyposis'

Previous students:

Joanna Hurley, MD (2012-2015)
- 'Molecular genetic and endoscopic studies of duodenal polyposis in the inherited colorectal adenoma and cancer predisposition syndromes (Familial Adenomatous Polyposis and MUTYH-Associated Polyposis)'

My research interests involve the use of high throughput genomic technologies to determine the molecular mechanisms underlying rare genetic disorders and tumour predisposition syndromes.

My research is funded by a Health and Care Research Wales Fellowship.

Research studies in which I am currently involved include:

Molecular genetic analysis of duodenal polyposis in the inherited colorectal adenoma and cancer predisposition syndromes (Familial Adenomatous Polyposis and MUTYH-Associated Polyposis) (15/WA/0075. CRNCC ID, 19065) [Chief Investigator]
Genetic mechanisms in polyposis of the bowel (12/WA/0071. CRNCC ID, 14774)
A Prospective Europe-Wide Study of Duodenal Disease in MUTYH-Associated Adenomatous Polyposis (MAP).(11/WA/0208)

Exome/genome sequencing of TSC no mutation identified (NMI) patients (11/WA/0276. CRNCC ID, 13635) tuberous-sclerosis.org/take-part-in-research

Past projects

Proffiliau allanol