A study of patients in the North East of Scotland suggests younger patients with colorectal cancer (CRC) are under-referred to genetic service.
The retrospective case note review was conducted for patients aged under 55 years who were diagnosed with CRC between 2005 and 2015 in the North East of Scotland. Cases were identified through pathology records and data was obtained from patient notes.
Data from 345 patients (age range 22-54 years) were identified. Most patients (61%) presented with advanced disease.
One-year, five-year and overall survival rates were found to be 89%, 63%, and 55%, respectively.
Of 201 patients who met criteria for genetic referral, only 93 (46%) were referred to genetic services. Microsatellite instability (MSI) was identified in 14% of those referred.
The study suggests that survival is better in young-onset CRC than later-onset disease, despite higher rates of advanced disease at the diagnosis.
The authors highlighted the under-referral to genetic services where a significant proportion of patients in this sample were found to be MSI positive and investigated for Lynch syndrome.
