Dr James William Whitworth

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Biography

James studied medicine at the University of Leicester, graduating in 2007 following the award of an intercalated BSc in Physiology and Pharmacology in 2005. He completed his junior doctor foundation and core medical training in Leicester before taking up an Academic Clinical Fellowship in Clinical Genetics at Birmingham Women’s Hospital. He was awarded a Cambridge Cancer Centre Clinical Research Training Fellowship in 2015 and currently is undertaking research investigating genetic causes of cancer in the Department of Medical Genetics, University of Cambridge.

Qualifications:

BSc (Hons) in Biological Sciences (Physiology and Pharmacology), University of Leicester

Research

My current research project utilises recent advances in genetic sequencing technologies to elucidate the genetic basis of multiple primary tumours through analysis of patient DNA samples. The aim of this work is to better define tumour phenotypes associated risk variants in known cancer predisposition genes and identify novel genes associated with susceptibility to tumour development.

Selected Publications

JOURNAL ARTICLES

Whitworth J, Stausbøl-Grøn B, Skytte A-B (2016) Genetically diagnosed Birt–Hogg–Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. Fam Cancer. doi: 10.1007/s10689-016-9928-y , 2016
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth H V, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet 47:1363–1369. doi: 10.1038/ng.3410. , 2015
Whitworth J, Hoffman J, Chapman C, Ong KR, Lalloo F, Evans DG, Maher ER (2014) A clinical and genetic analysis of multiple primary cancer referrals to genetics services. Eur J Hum Genet 23:1–7. doi: 10.1038/ejhg.2014.157 , 2014
Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar A V, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson a B, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DGR, Hodgson S V, Irving R, Woodward E, Macdonald F, Maher ER (2013) Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. Clin Endocrinol (Oxf) 78:898–906. doi: 10.1111/cen.12074. , 2013
Tanteles G a, Whitworth J, Mills J, Peat I, Osman a, McCann GP, Chan S, Barwell JG, Talbot CJ, Symonds RP (2009) Can cutaneous telangiectasiae as late normal-tissue injury predict cardiovascular disease in women receiving radiotherapy for breast cancer? Br J Cancer 101:403–9. doi: 10.1038/sj.bjc.6605182. , 2009

BOOK CHAPTERS

Whitworth J, Maher ER (2016) Cancer Genetics and Genomics. In: Kumar D, Antonarakis S (eds) Med. Heal. Genomics, 1st ed. Elsevier Inc., pp 261–285 , 2016

ELECTRONIC ARTICLES

Whitworth J, Skytte A-B, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER (2015) Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. JAMA Oncol 2:373–9. doi: 10.1001/jamaoncol.2015.4771 , 2015

Memberships

British Society of Genetic Medicine

European Society of Human Genetics

Institute of Continuing Education
Madingley Hall
Madingley
Cambridge
CB23 8AQ

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