Dataset Information

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

ABSTRACT: The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which raises intriguing questions about the origins of the mutation. We genotyped 245 carrier families from 14 different population groups (Russian, Latvian, Ukrainian, Czech, Slovak, Polish, Danish, Dutch, French, German, Italian, Greek, Brazilian and AJ) for seven microsatellite markers and confirmed that all mutation carriers share a common haplotype from a single founder individual. Using a maximum likelihood method that allows for both recombination and mutational events of marker loci, we estimated that the mutation arose some 1800 years ago in either Scandinavia or what is now northern Russia and subsequently spread to the various populations we genotyped during the following centuries, including the AJ population. Age estimates and the molecular evolution profile of the most common linked haplotype in the carrier populations studied further suggest that c.5266dupC likely entered the AJ gene pool in Poland approximately 400-500 years ago. Our results illustrate that (1) BRCA1 c.5266dupC originated from a single common ancestor and was a common European mutation long before becoming an AJ founder mutation and (2) the mutation is likely present in many additional European countries where genetic screening of BRCA1 may not yet be common practice.

SUBMITTER: Hamel N

PROVIDER: S-EPMC3062007 | biostudies-other | 2011 Mar

REPOSITORIES: biostudies-other

ACCESS DATA

Publications

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

Hamel Nancy N Feng Bing-Jian BJ Foretova Lenka L Stoppa-Lyonnet Dominique D Narod Steven A SA Imyanitov Evgeny E Sinilnikova Olga O Tihomirova Laima L Lubinski Jan J Gronwald Jacek J Gorski Bohdan B Hansen Thomas v O Tv Nielsen Finn C FC Thomassen Mads M Yannoukakos Drakoulis D Konstantopoulou Irene I Zajac Vladimir V Ciernikova Sona S Couch Fergus J FJ Greenwood Celia M T CM Goldgar David E DE Foulkes William D WD

European journal of human genetics : EJHG 20101201 3

The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which raises intriguing questions about the origins of the mutation. We genotyped 245 carrier families from 14 different population groups (Russian, Latvian, Ukrainian, Czech, Slovak, Polish, Danish, Dutch, French, German, Italian, Greek, Brazilian and AJ) for seven microsatellite marke ...[more]

PMID: 21119707

Similar Datasets

Project description:OBJECTIVE:To compare coronary risk factors and disease prevalence among Indians, Pakistanis, and Bangladeshis, and in all South Asians (these three groups together) with Europeans. DESIGN:Cross sectional survey. SETTING:Newcastle upon Tyne. PARTICIPANTS:259 Indian, 305 Pakistani, 120 Bangladeshi, and 825 European men and women aged 25-74 years. MAIN OUTCOME MEASURES:Social and economic circumstances, lifestyle, self reported symptoms and diseases, blood pressure, electrocardiogram, and anthropometric, haematological, and biochemical measurements. RESULTS:There were differences in social and economic circumstances, lifestyles, anthropometric measures and disease both between Indians, Pakistanis, and Bangladeshis and between all South Asians and Europeans. Bangladeshis and Pakistanis were the poorest groups. For most risk factors, the Bangladeshis (particularly men) fared the worst: smoking was most common (57%) in that group, and Bangladeshis had the highest concentrations of triglycerides (2.04 mmol/l) and fasting blood glucose (6.6 mmol/l) and the lowest concentration of high density lipoprotein cholesterol (0.97 mmol/l). Blood pressure, however, was lowest in Bangladeshis. Bangladeshis were the shortest (men 164 cm tall v 170 cm for Indians and 174 cm for Europeans). A higher proportion of Pakistani and Bangladeshi men had diabetes (22.4% and 26.6% respectively) than Indians (15.2%). Comparisons of all South Asians with Europeans hid some important differences, but South Asians were still disadvantaged in a wide range of risk factors. Findings in women were similar. CONCLUSION:Risk of coronary heart disease is not uniform among South Asians, and there are important differences between Indians, Pakistanis, and Bangladeshis for many coronary risk factors. The belief that, except for insulin resistance, South Asians have lower levels of coronary risk factors than Europeans is incorrect, and may have arisen from combining ethnic subgroups and examining a narrow range of factors.

Dataset Information

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

Publications

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets