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@article{969169,
author = {Hamel, N. and Feng, B. J. and Foretová, Lenka and StoppaandLyonnet, Dominique and Narod, Steven A. and Imyanitov, Evgeny and Sinilnikova, Olga and Tihomirova, Laima and Lubinski, Jan and Gronwald, Jacek and Gorski, Bohdan and Hansen, Thomas V. O. and Nielsen, Finn C. and Thomassen, Mads and Yannoukakos, Drakoulis and Konstantopoulou, Irene and Zajac, Vladimir and Ciernikova, Sona and Couch, Fergus J. and Greenwood, Celia M. T. and Goldgar, David E. and Foulkes, William D.},
article_location = {England},
article_number = {3},
doi = {http://dx.doi.org/10.1038/ejhg.2010.203},
keywords = {5385insC; 5382insC; founder mutation; c.5266dupC; BRCA1; Europe},
language = {eng},
issn = {1018-4813},
journal = {European Journal of Human Genetics},
title = {On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations},
volume = {19},
year = {2011}
}
TY - JOUR
ID - 969169
AU - Hamel, N. - Feng, B. J. - Foretová, Lenka - Stoppa-Lyonnet, Dominique - Narod, Steven A. - Imyanitov, Evgeny - Sinilnikova, Olga - Tihomirova, Laima - Lubinski, Jan - Gronwald, Jacek - Gorski, Bohdan - Hansen, Thomas V. O. - Nielsen, Finn C. - Thomassen, Mads - Yannoukakos, Drakoulis - Konstantopoulou, Irene - Zajac, Vladimir - Ciernikova, Sona - Couch, Fergus J. - Greenwood, Celia M. T. - Goldgar, David E. - Foulkes, William D.
PY - 2011
TI - On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
JF - European Journal of Human Genetics
VL - 19
IS - 3
SP - 300-306
EP - 300-306
PB - Nature Publishing Group
SN - 10184813
KW - 5385insC
KW - 5382insC
KW - founder mutation
KW - c.5266dupC
KW - BRCA1
KW - Europe
N2 - 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.
ER -
HAMEL, N., B. J. FENG, Lenka FORETOVÁ, Dominique STOPPA-LYONNET, Steven A. NAROD, Evgeny IMYANITOV, Olga SINILNIKOVA, Laima TIHOMIROVA, Jan LUBINSKI, Jacek GRONWALD, Bohdan GORSKI, Thomas V. O. HANSEN, Finn C. NIELSEN, Mads THOMASSEN, Drakoulis YANNOUKAKOS, Irene KONSTANTOPOULOU, Vladimir ZAJAC, Sona CIERNIKOVA, Fergus J. COUCH, Celia M. T. GREENWOOD, David E. GOLDGAR a William D. FOULKES. On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. \textit{European Journal of Human Genetics}. England: Nature Publishing Group, 2011, roč.~19, č.~3, s.~300-306. ISSN~1018-4813. Dostupné z: https://dx.doi.org/10.1038/ejhg.2010.203.
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