TITLE:
Clinical Analysis of the Colorectal Cohort within the Wales Cancer Biobank: A Study of Outcomes and Genetic Screening
AUTHORS:
Lisa K. Spary, Katie DeLoyde, Helen Roberts, Fiona Martin, Chi Pooi Lee, Rachel Butler, Malcolm D. Mason, Geraldine A. Thomas, Alison Parry-Jones, Richard A. Adams
KEYWORDS:
Colorectal, Cancer, Biobank, Outcome, Genetics, Screening
JOURNAL NAME:
Journal of Cancer Therapy,
Vol.14 No.7,
July
19,
2023
ABSTRACT: Over the last 12 years, the Wales Cancer Biobank (WCB) has consented to more than 2000 patients with colorectal cancer (CRC).
From these patients, clinical data has been collected and patients have been followed
through their cancer journey. Clinical data from these patients have been analyzed
to identify any correlation between disease grade and outcome. In a small cohort,
consisting of 407 patients, WCB has performed genetic analysis on patient primary
tumor samples, identifying and characterizing mutations in the KRAS, NRAS, BRAF, PIK3CA and TP53 genes. The majority of patients with
CRC who were consented to WCB were male with a mean age of 69 years and received surgery as the primary
treatment for their disease. Pathology and disease-free survival data confirmed
worse prognoses associated with more advanced disease. Heterogeneity within the primary
tumor was explored in a subgroup of patients. Analysis of the KRAS and TP53 genes confirmed that
more than 40% of CRC patients who were tested, harbored a genetic mutation within these genes
in their primary tumor. Due to the limited sample size tested, most mutations did
not show significant differences in disease-free survival, however, mutation of the BRAF gene did show a
decrease in the disease specific survival, in keeping with the published data. Analysis of the patients diagnosed with
CRC within the Biobank has provided us with valuable information on the status of
CRC disease and treatment within the Welsh population.
Over 12 years of consenting, we have witnessed significant changes in the information that researchers
are interested in when sourcing samples for translational
research. The development of new drugs that are
tailored to the genetics of a cancer is emerging and at WCB we are focusing
our collections on samples and data that meet the needs of this ever-evolving field.