Genetic epidemiology of BRCA1 mutations in Norway

Møller, P; Heimdal, K; Apold, J; Fredriksen, Å; Borg, Å; Hovig, E; Hagen, A; Hagen, B; Pedersen, J.C; Mæhle, L; The Norwegian Inherited Breast Cancer Group, The Norwegian Inherited Ovarian Cancer Group,

doi:10.1016/S0959-8049(01)00299-4

« Previous Next »European Journal of Cancer
Volume 37, Issue 18 , Pages 2428-2434, December 2001

Genetic epidemiology of BRCA1 mutations in Norway

P Møller
- Section of Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, N-0310 Oslo, Norway
- Correspondending author. Tel.: +47-2293-5675; fax: +47-2293-5219
K Heimdal
- Section of Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, N-0310 Oslo, Norway
J Apold
- Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
Å Fredriksen
- Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
Å Borg
- Department of Oncology, University Hospital, Lund, Sweden
E Hovig
- Department of Tumour Biology, The Norwegian Radium Hospital, N-0310 Oslo, Norway
A Hagen
- Surgical Department, University Hospital of Trondheim, Norway
B Hagen
- Gynaecological Department, University Hospital of Trondheim, Norway
J.C Pedersen
- Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway
L Mæhle
- Section of Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, N-0310 Oslo, Norway
The Norwegian Inherited Breast Cancer Group, The Norwegian Inherited Ovarian Cancer Group
- The list of group members can be found in the Appendix.

Received 8 May 2001; received in revised form 11 July 2001; accepted 20 August 2001.

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 plagues 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 3347delAG 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.

Keywords: BCRA1, Inherited, Breast cancer, Ovarian cancer, Epidemiology, Founder mutation