No abstract available.
Genes, vif ; Microsatellite Instability ; Microsatellite Repeats

No abstract available.
Colon* ; Colonic Neoplasms* ; Microsatellite Instability* ; Microsatellite Repeats*

PURPOSE: Replication error (RER) is an important mechanism in the gastric carcinogenesis and known to contribute to the pathogenesis of multiple gastric carcinomas (GCs). A proportion of sporadic GCs are RER-positive and RER-positive GCs have been reported to have distinct clinicopathological features. The purpose of the present study included whether there are characteristic clinicopathological features of RER-positive GCs and whether there is a difference of RER frequency between single and multiple GC in age-matched patients. MATERIALS AND METHODS: We analyzed 96 cases of single GC and 19 cases of multiple GC for the RER status using 7 microsatellite loci to assess their clinicopathological features. RESULT: Ten cases (10%) of 96 single GCs and five cases (26.3%) of 19 multiple GCs were RER-positive. However, comparison of RER frequency between single and multiple GCs in patients older than 60 years revealed no significant difference. Jn single GCs, RER-positive tumors showed a proclivity toward older age, antral location, and elevated gross type (Borrmann 2 or EGC IIa or I). Multiple GCs with RER showed a female-sex preponderance. Clinicopathological features of RER-positive tumors were similar in both single and multiple GCs. CONCLUSION: The present study revealed that RER-positive tumors had distinct clinico- pathological features and there was no significant difference of RER frequency between single and multiple GC in elderly patients. Our data suggests that RER contributes to the pathogenesis of GC, either single or multiple, in aged patients.
Aged ; Carcinogenesis ; Humans ; Microsatellite Instability ; Microsatellite Repeats

No abstract available.
Frameshift Mutation ; Microsatellite Instability ; Microsatellite Repeats

Lymphoma is one of the most common malignant tumor of the hematologic system. The genome instability is not only an important molecular basis for the development of lymphoma, but also has important value in the diagnosis and prognosis of lymphoma. There are 2 types of genome instability: Microsatellite instability (MSI/MIN) at gene level and chromosomal instability at chromosome level. Through the study on genes associated with lymphoma, the unstable genes associated with lymphoma could be found, meanwhile the mechanism of its occurrence and development of lymphoma could be explored, and the important basis of molecular biology could also be provided in the field of current hot lymphoma precision medical research.
Genomic Instability ; Humans ; Lymphoma/genetics* ; Microsatellite Instability ; Microsatellite Repeats ; Neoplasms

Colorectal cancer (CRC) has been assumed for many years to be a homogenous condition with the vast majority developing within preexisting-adenomas. However, over the last two-decades, it has become clear that CRC evolves through multiple pathways at the genetic and the epigenetic level. Each of these processes is associated with a unique genetic or epigenetic signature identifiable in the tumor cells. The pathway may be defined on the basis of three molecular features: 1) chromosomal instability (CIN), 2) microsatellite instability (MSI), and 3) CpG island methylator phenotype (CIMP). Those molecular pathways are determined at an early evolutionary stage and are fully established within early cancer. Recently, five subgroups were outlined by using morphological findings and associated molecular changes: type 1 (CIN-stable/ MSI-H/CIMP-H), type 2 (CIN-stable/MSI-L or MSS/ CIMP-H), type 3 (CIN-unstable/MSI-L or MSS/CIMP-L), type 4 (CIN-instable/MSS/CIMP-neg), and type 5 (CIN- stable/MSI-H/CIMP-neg). This approach to the classification of CRC should accelerate understanding of causation and will have an impact on clinical management in the areas of both prevention and treatment.
Chromosomal Instability ; Colorectal Neoplasms ; CpG Islands ; Epigenomics ; Microsatellite Instability ; Phenotype

Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis is a kind of sensitive mutation detection method that has been usually used in field of medical genetics. A single DNA strand with a mutation or nucleotide polymorphism has a different conformation from its wild-type counterpart, and these conformational differences result in different electrophoretic mobility. In previous study of mitochondrial microsatellite instability in 50 uterine leiomyomas, PCR-SSCP showed 4 types of band mobility at (CA)n of the mitochondrial D-loop. In type 1 and 4, positions of the lower single stand of both were same but those of upper strand were different. In sequencing analysis, repeat number of (CA)n in type 1 was 4, 5 in type 2, 6 in type 3, and 4 in type 4, respectively. Without using expensive sequencing analysis, PCR-SSCP method can be used to detect the repeat number of (CA)n in mitochondrial D-loop.
DNA ; Genetics, Medical ; Leiomyoma ; Methods ; Microsatellite Instability

In patients with colorectal cancer (CRC), the BRAF V600E mutation has been reported to be associated with several clinicopathological features and poor survival. However, the prognostic implications of BRAF V600E mutation and the associated clinicopathological characteristics in CRCs remain controversial. Therefore, we reviewed various clinicopathological features, including BRAF status, in 349 primary CRCs and analyzed the relationship between BRAF status and various clinicopathological factors, including overall survival. Similar to previous studies conducted in Eastern countries, the incidence of the BRAF V600E mutation in the current study was relatively low (5.7%). BRAF-mutated CRC exhibits distinct clinicopathological features from wild-type BRAF-expressing cancer independent of the microsatellite instability (MSI) status. This mutation was significantly associated with a proximal tumor location (P = 0.002); mucinous, signet ring cell, and serrated tumor components (P < 0.001, P = 0.003, and P = 0.008, respectively); lymphovascular invasion (P = 0.004); a peritumoral lymphoid reaction (P = 0.009); tumor budding (P = 0.046); and peritoneal seeding (P = 0.012). In conclusion, the incidence of the BRAF V600E mutation was relatively low in this study. BRAF-mutated CRCs exhibited some clinicopathological features which were also frequently observed in MSI-H CRCs, such as a proximal location; mucinous, signet ring cell, and serrated components; and marked peritumoral lymphoid reactions.
Colorectal Neoplasms* ; Humans ; Incidence ; Microsatellite Instability* ; Microsatellite Repeats* ; Mucins

PURPOSE: Replication error is an important mechanism in carcinogenesis. The microsatellite instability (MSI-H) of colorectal cancers is associated with the development of multiple cancers. The influence of MSI-H on the development of multiple gastric cancers in sporadic gastric cancer patients has not been defined. This study was performed to reveal the association between the clinicopathologic features and MSI in sporadic gastric cancers. MATERIALS AND METHODS: Between July 2004 and March 2009, the clinicopathologic characteristics, including MSI status, were evaluated in 128 consecutive patients with sporadic gastric cancers. None of the patients had hereditary non-polyposis colorectal cancer of familial gastric cancer. The markers that were recommended by the NCI to determine the MSI status for colorectal cancers were used. RESULTS: MSI-H cancers were found in 10.9% of the patients (14/128). Synchronous gastric cancers were shown in 4 patients (3.1%). Synchronous cancers were found in 2 of 14 patients with MSI-H gastric cancer (14.3%) and 2 of 114 patients with MSS gastric cancer (1.8%; P=0.059, Fisher's exact test). Among the patients with synchronous cancer 50% (2/4) had MSI-H cancer, but 9.7% of the patients (12/124) without synchronous cancer had MSI-H cancer. MSI-H (RR, 24.7; 95% CI, 1.5~398.9; P=0.024) was related with to synchronous gastric cancer, but age, gender, family history, histologic type, location, gross morphology, size, and stage were not related to synchronous gastric cancer. CONCLUSIONS: MSI is associated with the intestinal-type gastric cancer and the presence of multiple gastric cancers in patients with sporadic gastric cancer. Special attention to the presence of synchronous and the development of metachronous multiple cancer in patients with MSI-H gastric cancer is needed.
Colorectal Neoplasms ; Humans ; Microsatellite Instability ; Microsatellite Repeats ; Stomach Neoplasms ; Succinimides

No abstract available.
Colorectal Neoplasms* ; Humans ; Microsatellite Instability* ; Microsatellite Repeats* ; Mucins*