dbMMR-Chinese v2.0

An open-access database of DNA mismatch repair (MMR) gene variants in Chinese population
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Paper published:
Zhang L, et al. Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population. J Med Genet. 2021 Jun 25:jmedgenet-2021-107886.

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dbMMR-Chinese v2.0 released (Apr. 2021)

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Paper published:
Zhang L, et al. Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature. Eur J Cancer. 2020 Jan;125:12-21.

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dbMMR-Chinese v1.0 released (Feb. 2020)

DNA mismatch repair (MMR) genes play important roles in maintaining genomic stability. Mutation in MMR genes disrupts their mismatch repair function, leading to genomic instability and increased cancer risk as represented by the Lynch syndrome (LS). Mutation in MMR genes is highly ethnic-specific. The MMR data in current MMR databases are mainly derived from the Caucasian populations but lack of the data derived from non-Caucasian populations. China has a population size of 1.4 billion. MMR data from the Chinese population is lacking as MMR mutation in the population has not been systematically characterized. Through comprehensive data mining, standardization and annotation of the MMR data originated from over 53,000 ethnic-Chinese healthy and cancer individuals, we have identified 21,376 distinct MMR variants including 4,530 in MLH1, 10,474 in MSH2, 3,101 in MSH6 and 3,271 in PMS2, 1,894 were located in the coding region and 19,482 in the non-coding region of MMR genes. The database includes almost all MMR gene variants reported so far from the Chinese population, their variation frequency and clinical classification. Using the MMR data, we constructed the Chinese MMR variation database, dbMMR-Chinese, as an open-access resource for scientific community. We hope that the database should greatly promote MMR-related cancer research and clinical applications.