Sentence examples for mutations of mismatch from inspiring English sources

Several studies in S. cerevisiae have shown that mutations of mismatch repair genes lead to an increase in mitotic homeologous recombination [20] [22].

In LS germline mutations of mismatch repair (MMR) genes predispose to early onset CRC with microsatellite instability (MSI).

Lynch syndrome is an autosomal dominant cancer susceptibility syndrome that accounts for approximately 2 4% of all colorectal cancers (CRCs) and is caused by germline mutations of mismatch repair (MMR) genes [ 1- 4].

Intestinal gastric cancers have been identified as common extracolonic tumors in the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome [ 1], which are often caused by germline mutations of mismatch repair genes, predominantly MLH1 (Gene ID 4292)[ 4].

Somatic mutations of mismatch repair (MMR) genes such as hMLH1 or hMSH2 are extremely rare in sporadic GCs, with only one mutation found, in hMSH2 and two cases of a germline frameshift mutation in hMLH1 (Wu et al. 1997; Bacani et al. 2005).

Germline mutation of mismatch repair (MMR) genes (mainly hMLH1 and hMSH2) are detected in over 70% of HNPCC patients with MSI (Kane et al, 1997; Papadopoulos and Lindblom, 1997).

MSI CRCs also constitute a heterogeneous group of CC, including both tumors with germline mutation of mismatch repair genes and tumors with CIMP and hypermethylation of the MLH1 gene promoter.

In addition, we will review some of the recent advancements concerning the understanding of the biological mechanisms of treatment resistance in high-grade gliomas, such as treatment-associated somatic mutations of the mismatch repair gene MSH6 [ 15, 57, 139].

Investigating gliomas that had recurred after treatment with alkylating agents, Hunter et al. identified somatic mutations of the mismatch repair gene MSH6 in a large-scale sequencing approach of the functional domains of 518 protein kinases [ 57].

This is due to the discovery that MSI may be found in sporadic carcinomas that are characteristic of hereditary nonpolyposis colorectal cancer (HNPCC) (Peltomaki et al. 1993), a syndrome where germline mutations of the mismatch repair genes are present.

Mutation screening of mismatch repair genes was performed using direct sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA).