ArticleLife science alliance2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Article in Life science alliance, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.Life (Basel, Switzerland) · 2026Article
- Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.Genes & diseases · 2026Review
- Understanding Cancer Health Disparities.Cancers · 2026Review
- First report of MUTYH-associated polyposis with c.1353_1355del and c.452A>G mutations in Tolima Grande region from Colombia: a case report.Frontiers in oncology · 2026Article
- Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.Briefings in bioinformatics · 2024Article
- Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.BMC genomics · 2024Article
- Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.BMC cancer · 2024Article
- Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.Frontiers in genetics · 2024Article
- Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.International journal of cancer · 2023Article
- A global perspective on the ethnic-specificJournal of the National Cancer Center · 2023Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deleterious variants in DNA damage repair (DDR) system can cause genome instability and increase cancer risk. In this study, we analyzed the deleterious variants in DDR system in 16 ethnic human populations. From the genetic variants in 169 DDR genes involved in nine DDR pathways collected from 158,612 individuals of different ethnic background, we identified 1,781 deleterious variants in 81 DDR genes in eight DDR pathways (https://genemutation.fhs.um.edu.mo/dbddr-global/). Our analysis showed although the quantity of deleterious variants was loaded at a similar level, the landscape of the variants differed substantially among different populations that two-third of the variants were present in single ethnic populations, and the rest was mostly shared between the populations with closer geographic and genetic relationship. The highly ethnic-specific DDR deleterious variation suggests its potential relationship with different disease susceptibility in ethnic human populations.
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