Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers.

Dafydd Gareth EvansFiona LallooNeil Aj RyanNaomi BowersKate GreenEmma Roisin WoodwardTara ClancyJames BoltonRhona J McVeyAndrew J WallaceKaty NewtonJames HillRaymond McMahonEmma J Crosbie

Published in: Journal of medical genetics (2021)

Reflex testing of EC/CRC leads to uncertain diagnoses in many individuals with dMMR following IHC but without germline pathogenic variants or MLH1 hypermethylation. Tumour mutation testing is effective at decreasing this by identifying somatic dMMR in >75% of cases.

Keyphrases

copy number
genome wide
dna repair
endometrial cancer
gene expression
replacement therapy
young adults
oxidative stress