Paper
Germline Mutation Characteristics of MSH6, PMS2 And MLH3: A Statistical Analysis Based on All Reported Data
- Authors:
- Jiang Fan; Fangqi Liu; Huining Gu; Ye Xu; Peng Nan; Binbin Cai
- Abstract
- Loss of mismatch repair (MMR) function predisposes to a mutator cell phenotype, microsatellite instability (MSI) and cancer, especially hereditary non-polyposis colorectal cancer (HNPCC). Plenty of studies of MMR gene MLH1 and MSH2 have been conducted and many mutations have been reported. However, there are few studies of other MMR genes, such as MSH6, PMS2 and MLH3, which are also important especially from statistical aspect. In this study, we collected all the related literatures and extracted the useful information to build a database and performed further analysis. The study focused on the germline mutation characteristics of these three genes and proposed different strategies when dealing with patients of different area, genders and ages. The results showed that (1) each gene has its own hot spots, exons and mutation pattern, which we might pay special attention to when processing the clinical detection and diagnosis; (2) Although Asian people account for the minority of the total patients, there are still some important hot spots and exons that are different from the total sample and require special attention; (3) For the patients with mutations of MSH6, the average age of patients (around 50) is older than usual age (45), and many of them would get more than one attack. And it is worth mentioning that most women (51.3%) got both colorectal cancer and endometrial cancer, which implies that when diagnosing colorectal cancer, it is necessary to check the female reproductive systems such as the uterus and ovary for women.
- Keywords
- HNPCC; MSH6; PMS2; MLH3; Data Analysis
- StartPage
- 33
- EndPage
- 44
- Doi