Advanced

Genetic epidemiology of BRCA1 mutations in Norway

Moller, P.; Heimdal, K.; Apold, J.; Fredriksen, A.; Borg, Åke LU ; Hovig, E.; Hagen, A.; Hagen, B.; Pedersen, J.C. and Maehle, L. (2001) In European Journal of Cancer 37(18). p.2428-2434
Abstract
Familial breast-ovarian cancer has been demonstrated to be frequent but unevenly distributed in Norway. This was assumed to be caused by the reduced population size created by the medieval Bubonic plague, 25 generations ago, and by the following rapid expansion. We have previously reported that four mutations account for 68% of the BRCA1 mutation carriers. Subsequent analysis has resulted in a total of 100 separate families carrying one of these founder mutations. The four mutations occurred on one specific BRCA1 haplotype each. The 1675delA, 816delGT and 3347detAG families originated from the South-West coast of Norway with a few Families in the north, while the traceable ancestors of the 1135insA families clustered along the historical... (More)
Familial breast-ovarian cancer has been demonstrated to be frequent but unevenly distributed in Norway. This was assumed to be caused by the reduced population size created by the medieval Bubonic plague, 25 generations ago, and by the following rapid expansion. We have previously reported that four mutations account for 68% of the BRCA1 mutation carriers. Subsequent analysis has resulted in a total of 100 separate families carrying one of these founder mutations. The four mutations occurred on one specific BRCA1 haplotype each. The 1675delA, 816delGT and 3347detAG families originated from the South-West coast of Norway with a few Families in the north, while the traceable ancestors of the 1135insA families clustered along the historical inland road from the South-East to mid-Norway. The carriers of each of the four mutations today are descendants of one or a few individuals surviving the plagues. We may identify the majority of BRCA1 mutation carriers in Norway by screening for local founder mutations. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
BCRA1, Inherited, Breast cancer, Ovarian cancer, Epidemiology, Founder mutation
in
European Journal of Cancer
volume
37
issue
18
pages
2428 - 2434
publisher
IFAC & Elsevier Ltd.
external identifiers
  • wos:000172631200025
  • scopus:0035201751
ISSN
1879-0852
DOI
10.1016/S0959-8049(01)00299-4
language
English
LU publication?
yes
id
9185d6be-8e24-4b37-b703-3e16b3a50082 (old id 1118612)
date added to LUP
2008-07-08 08:58:57
date last changed
2018-06-24 03:39:09
@article{9185d6be-8e24-4b37-b703-3e16b3a50082,
  abstract     = {Familial breast-ovarian cancer has been demonstrated to be frequent but unevenly distributed in Norway. This was assumed to be caused by the reduced population size created by the medieval Bubonic plague, 25 generations ago, and by the following rapid expansion. We have previously reported that four mutations account for 68% of the BRCA1 mutation carriers. Subsequent analysis has resulted in a total of 100 separate families carrying one of these founder mutations. The four mutations occurred on one specific BRCA1 haplotype each. The 1675delA, 816delGT and 3347detAG families originated from the South-West coast of Norway with a few Families in the north, while the traceable ancestors of the 1135insA families clustered along the historical inland road from the South-East to mid-Norway. The carriers of each of the four mutations today are descendants of one or a few individuals surviving the plagues. We may identify the majority of BRCA1 mutation carriers in Norway by screening for local founder mutations.},
  author       = {Moller, P. and Heimdal, K. and Apold, J. and Fredriksen, A. and Borg, Åke and Hovig, E. and Hagen, A. and Hagen, B. and Pedersen, J.C. and Maehle, L.},
  issn         = {1879-0852},
  keyword      = {BCRA1,Inherited,Breast cancer,Ovarian cancer,Epidemiology,Founder mutation},
  language     = {eng},
  number       = {18},
  pages        = {2428--2434},
  publisher    = {IFAC & Elsevier Ltd.},
  series       = {European Journal of Cancer},
  title        = {Genetic epidemiology of BRCA1 mutations in Norway},
  url          = {http://dx.doi.org/10.1016/S0959-8049(01)00299-4},
  volume       = {37},
  year         = {2001},
}