Prognosis in DNA mismatch repair deficient colorectal cancer: are all MSI tumours equivalent?

摘要: Microsatellite instability (MSI) in colorectal tumours is the hallmark of defective DNA mismatch repair (MMR) and high level MSI can be detected up to 15% incident cancers. sporadic primarily due epigenetic silencing MLH1 while almost universal from HNPCC family members germline MMR gene mutation with loss or mutational inactivation second copy as a somatic event. There evidence that tumour associated better outcome than generality large bowel malignancy. However, although occurs both cancer arising patients mutations, survival should not considered equivalent for these two groups simply because exhibit similarities molecular phenotype. Here, we review on prognosis compared those who have inherited defect. In addition, explore whether there are variables afford opportunity distinguish three basis status, namely: tumours; carriers defects; microsatellite stable (MSS) tumours. Differences between important it underpins rationale surveillance early identification carriers, well refining understanding influence progression. Furthermore, discuss effect effectiveness chemotherapy regimens.