NIHR | Manchester Biomedical Research Centre

Manchester researchers uncover novel insights into early detection of cancer

Three new publications in the high impact JAMA group of journals provide information that could shape the way in which patients with a genetic predisposition are screened for cancers associated with brain and nerve cell tumours, Lynch Syndrome and Li-Fraumeni Syndrome.

Manchester Biomedical Research Centre (BRC) researchers co-authored the publications and now plan to further explore preventative strategies.

Brain and nerve cancers

Published in JAMA Neurology1, findings of a study led by Professor Gareth Evans’ and Miriam Smith’s team indicate that genetic testing for young people with a solitary meningioma (brain tumour) or schwannoma (benign nerve cell tumour) may be useful in predicting their likelihood of developing additional tumours and the possibility of hereditary disease.

The BRC plans to discover genetic variants of vestibular schwannomas (VS) which cause deafness in Neurofibromatosis type 2 patients to develop therapeutic targets.  This will bring together experts involved with our Cancer Prevention and Early Detection (PED) and Hearing Health research programmes.

Lynch syndrome

Lynch syndrome (LS)-associated cancers (inc. colorectal, endometrial, ovarian) are amenable to surveillance strategies that may improve survival.  However, to date the age at which screening should start has been disputed.

This study published in JAMA Oncology2 provides evidence for the first time that mutation type, as well as the type of gene, affect age of onset of LS-associated cancers.

Professor Gareth Evans, NIHR Senior Investigator and Dr Emma Crosbie, NIHR Clinical Scientist led the research showing that screening could be started later for individual’s with the gene mutation types MSH6 and truncating MLH1.

Li-Fraumeni syndrome

Guidelines for clinical management in Li-Fraumeni Syndrome are limited and focused on organ-specific surveillance measures, despite the condition being associated with multiple organ cancer.

There is an unmet need for novel effective methods of cancer surveillance across a broad range of body areas to improve the likelihood of tumour identification and success of surgical removal.

Professor Gareth Evans contributed to this study3 which suggests that whole-body magnetic resonance imaging may have an important role to play in the early detection of treatable malignant tumours in patients carrying the TP53 gene mutation.


  1. Pathmanaban ON, Sadler KV, Kamaly-Asl ID, King AT, Rutherford SA, Hammerbeck-Ward C, McCabe MG, Kilday JP, Beetz C, Poplawski NK, Evans DG, Smith MJ. Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults. JAMA Neurol. 2017 Jul 31. doi: 10.1001/jamaneurol.2017.1406. [Epub ahead of print] (Paper in new high impact factor neurology journal (IF2017=10) demonstrating the need for germline testing of a panel of genes in apparently isolatedmeningioma or schwannoma aged <25 years)
  2. Ryan NAJ, Morris J, Green K, Lalloo F, Woodward ER, Hill J, Crosbie EJ, Evans DG. Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies. JAMA Oncol. 2017 Aug 3. doi: 10.1001/jamaoncol.2017.0619. [Epub ahead of print] (Genotype-phenotype paper in high impact factor oncology journal (IF2017=16.56) defining the potential for stratified screening by gene, gender and mutation type)
  3. Ballinger ML, Best A, Mai PL, Khincha PP, Loud JT, Peters JA, Achatz MI, Chojniak R, Balieiro da Costa A, Santiago KM, Garber J, O’Neill AF, Eeles RA, Evans DG, Bleiker E, Sonke GS, Ruijs M, Loo C, Schiffman J, Naumer A, Kohlmann W, Strong LC, Bojadzieva J, Malkin D, Rednam SP, Stoffel EM, Koeppe E, Weitzel JN, Slavin TP, Nehoray B, Robson M, Walsh M, Manelli L, Villani A, Thomas DM, Savage SA. Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis. JAMA Oncol. 2017 Aug 3. doi: 10.1001/jamaoncol.2017.1968. [Epub ahead of print]