Accession

PRJCA030554

Title

Gene Mutation Databases

Relevance

Medical

Data types

Variation

Organisms

Homo sapiens

Description

The database collection comprises a wide array of genetic variant data, focusing on diverse populations and historical contexts. It includes information on specific genetic variants from various Asian regions, such as China, Japan, Korea, and Taiwan, as well as data from Brazil and Portugal. Additionally, there are datasets dedicated to ancient and modern genetic samples, offering insights into historical genetic variations. The collection also features extensive data on gene promoters and cancer-related mutations, particularly from the Macau population. This comprehensive resource is essential for genetic research, providing valuable insights into population-specific genetic variations and historical genetic trends.

Sample scope

Multiisolate

Release date

2024-09-27

Publication

PubMed ID	Article title	Journal name	DOI
36385461	Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population	International Journal of Cancer	10.1002/ijc.34359
30702160	Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients	International Journal of Cancer	10.1002/ijc.32176
32817299	Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population	Journal of Medical Genetics	10.1136/jmedgenet-2020-107181
34172528	Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	Journal of Medical Genetics	10.1136/jmedgenet-2021-107886
32963034	Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations	Journal of Medical Genetics	10.1136/jmedgenet-2020-107299
34235180	BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort	Frontiers in Molecular Biosciences	10.3389/fmolb.2021.685174
33256598	Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition	BMC Genomics	10.1186/s12864-020-07222-5
35595529	Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations	Life Science Alliance	10.26508/lsa.202101319
38575974	Pathogenic variants in human DNA damage repair genes mostly arose in recent human history	BMC Cancer	10.1186/s12885-024-12160-6
38671360	Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health	BMC Cancer	10.1186/s12864-024-10311-4

Grants

Agency	program	Grant ID	Grant title
Macau Science and Technology Development Fund		N/A

External link

External link	Link description
https://genemutation.boboz.io	Gene Mutation Data Portal

Submitter

San Ming Wang (sanmingwang@um.edu.mo)

Organization

University of Macau

Submission date

2024-09-26

Project Data

Resource name	Description