COSMIClinical
Research type
Research Database
Full title
COSMIClinical: Targeted sequencing to evaluate molecular diagnosis & p
IRAS ID
117159
Contact name
Peter John Campbell
Contact email
Research summary
COSMI Clinical: Targeted Sequencing to Evaluate Molecular Diagnosis & Prognosis in Cancer
REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
14/EE/0082
Date of REC Opinion
24 Apr 2014
REC opinion
Favourable Opinion
Data collection arrangements
The COSMIClinical system will store disease details and genetic mutations for large numbers of tumour samples from cancer patients. The aim is to collect the mutations causing cancer in over 100,000 samples, and correlate these with disease descriptions to generate a database and website to explore and identify novel diagnostic and prognostic biomarkers.
Linked-anonymised samples will be collected by collaboration with a number of global institutes including biobanks and clinical laboratories. Disease details, expected to include diagnostic and prognostic indicators, and response to therapy, together with confirmation of consent, will accompany biological material and be stored securely at Sanger. Upon receipt, the pre-anonymised sample identifiers will be fully-anonymised. The anonymisation key will be encrypted, available only to named project managers. Each sample will be DNA sequenced against a panel of cancer-related genes in Sanger laboratories and the subsequent somatic mutations deposited in fully anonymised form only, in the COSMIC and COSMIClinical databases. The existing free public COSMIC website will display simple mutation & disease details alongside data curated from the public literature, whilst the similarly free publicly accessible COSMIClinical website will provide greater insights into the relationships between DNA mutations and disease progression, and response to therapeutics.
Research programme
COSMIClinical is intended to support scientists and clinicians investigate how DNA mutations can define a patient’s disease, and how they can affect a cancer patient’s prognosis and response to therapy. With large numbers of tumours examined, strong correlations are expected to define which gene mutations tend to cause which diseases; well characterised examples already include BRAF mutations and skin melanoma, and JAK2 mutations and certain blood cancers. Beyond diagnostic utility, we expect to observe connections between the presence of a gene mutation in a particular disease and the patient’s life expectancy. This will inform research scientists which DNA mutations are most significant for drug targeting, and also inform clinical geneticists on the advice they can offer cancer patients. In addition, the response of cohorts of patients to a variety of drug therapeutics is expected to show that particular drugs are more effective in the presence or absence of a gene mutation and these indications will be of great relevance to direct clinical trials. It is not expected this tool is used in the clinic to directly advise patient treatment, since it will be a statistical evaluation of large patient cohorts, with indirect relevance to any individual patient.
Research database title
COSMI Clinical: Targeted Sequencing to Evaluate Molecular Diagnosis & Prognosis in Cancer
Establishment organisation
Wellcome Trust Sanger Institue
Establishment organisation address
Hinxton
Cambridge
CB10 1SA