The SCOTTY Study: Sequencing of Colon Trios in the Young
Several screw cap tubes on a lab bench

Patient Inclusion/Exclusion Criteria

Patient Inclusion/Exclusion.

Quick Guide

Eligibility: Criteria Summary

 

Patients - Inclusion

  • Colorectal cancer at aged 40 years of age or under at the time of diagnosis.
  • Past cases now over age 40 years if previously diagnosed when aged 40 years or younger.                                                                                                        
  • No known genetic predisposition to the development of colorectal cancer or strong molecular family history of cancer consistent with known dominant disorders. All patients will be screened for known genetic predispositions and clinical syndromes. 
  • Able to provide written informed consent for whole genome sequencing and blood biomarkers.
  • Able provide a simple blood sample for whole genome sequencing & blood biomarkers or, failing this, a saliva sample may suffice.
  • Documentary evidence of a pathologically confirmed adenocarcinoma of colon or rectum.
  • Consent to access archival tumour material and (potentially) stored DNA.
  • Ascertainment of demographic data, height and weight, drug history and family history of colon cancer or other cancers.
  • Patients under the age of 16 years, parental consent must be provided (excluding Scotland where age of consent relates to competency and understanding).
  • Inclusion of any subjects from any part of mainland GB and Northern Ireland and can be of any ancestry.
  • Agree to being contacted should confirmatory samples be required and/or results are found to be of clinically significant relevance.

Patients – Exclusion

  • Unable to sample both parents.
  • Inability to provide informed consent.
  • Patients who have developed CRC aged over 40 years at diagnosis.
  • Familial CRC /strong family history of colorectal cancer or other relevant cancers.
  • Tumour that has shown loss of DNA mismatch repair gene protein expression or tumour that has exhibited MSI.
  • Known mutations in colorectal susceptibility genes in family (e.g. APC, MLH1, MSH2, MSH6, PMS2, MUTYH, POLE1, POLD1, SMAD4/BRCA/STK11).