There is a joint programme of cancer genetic research delivered by the University of Manchester and the Trust. We conduct translational research covering a number of inherited cancers and related syndromic conditions, from basic science through observational studies to clinical trials.
- Gene discovery. Work has been carried out over a number of years and has been fundamental in discovering the genetic basis of a range of conditions including SMARCE1 meningioma predisposition (2013), and LZTR1 schwannomatosis (2015).
- Clinical diagnostics. We have a widely recognized multidisciplinary team providing top level clinical and diagnostic services for patients with inherited cancer predisposing disorders including breast and ovarian cancer (BRCA1, BRCA2), inherited bowel cancer and polyposis syndromes (MSH2, MLH1, MSH6, APC, MYH1), inherited endocrine tumour conditions (MEN1, MEN2, vHL, SDHD, SDHB) and neurofibromatosis including NF1, NF2, schwannomatosis and SMARCE1 meningioma predisposition.
- From discovery to translation. The translation of such discoveries into improved health provision is a major aspect of our work. Our team has developed next-generation sequencing (NGS) panels including BRCA1 and BRCA2, MSH2, MLH1, MSH6, APC, MYH1 and recently discovered genes SMARCE1, LZTR1 and SMARCB1, as well as offering highly sensitive RNA testing for NF1.
- We work closely with patient groups especially the Hereditary Breast Cancer Help line, Lynch syndrome UK, Bowel cancer UK and Prevent Breast cancer to ensure our work is relevant to patient needs.
The team also provides direct support to the joint genetics and other specialist clinics including Risk reducing mastectomy MDTs at Wythenshawe (monthly), Gorlin MDTs at Christie (monthly) and endocrine MDTs.