Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.

Alessandro Pietro Aldera Jana van der Westhuizen Wan-Jung Tsai May J Krause Safiye Yildiz Komala Pillay Adam Boutall Rajkumar Ramesar

Published in: Journal of clinical pathology (2024)

The spectrum of disease-causing MMR gene variants in our population necessitates NGS testing for LS screening. This study also highlights the role of somatic testing on readily available FFPE samples to generate data on the epidemiology of CRC in different settings.

Keyphrases

copy number
south africa
genome wide
dna methylation
risk factors
hiv positive
electronic health record
big data
data analysis