Three per cent of Norwegian ovarian cancers are caused by BRCA1 1675delA or 1135insA

被引:35
作者
Dorum, A [1 ]
Hovig, E
Tropé, C
Inganas, M
Moller, P
机构
[1] Norwegian Radium Hosp, Unit Med Genet, N-0310 Oslo, Norway
[2] Norwegian Radium Hosp, Dept Tumour Biol, N-0310 Oslo, Norway
[3] Norwegian Radium Hosp, Dept Gynaecol Oncol, N-0310 Oslo, Norway
[4] Pharmacia Biotech, Uppsala, Sweden
关键词
hereditary breast-ovarian cancer; BRCA1; founder mutations; prognostic factors;
D O I
10.1016/S0959-8049(99)00050-7
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Our aim was to determine the prevalence of two Norwegian BRCA1 founder mutations in ovarian cancer patients, to identify carriers and their families for medical follow-up, and to study histopathological factors. Of a cohort of 727 ovarian cancer patients, 615 gave informed consent to testing. 2.9% (18/615) of the tested patients were found to be carriers of BRCA1 1675delA (n = 13) or 1135insA (n = 5). The total frequency of the mutations was 4.7% (8/171) in patients below 50 years of age, and zero (0/144) in patients above 70 years of age. In patients below 70 years of age, the frequency of 1675delA and 1135insA mutations was 2.8% and 1.0%, respectively. Out of 13 patients with 1675delA mutation, 4 had breast cancer. 14/16 (87.5%) families fulfilled clinical criteria for familial breast-ovarian cancer. Median age of onset of ovarian and breast cancer was 51 years and 37 years, respectively. Mutation carriers tended to have tumours with unfavourable prognostic factors. This is, to our knowledge, the highest reported frequency of founder mutations in a national ovarian cancer cohort (less than in the Ashkenazis). It seems justified to offer such testing to ovarian cancer patients below 70 years of age in Norway, identify their risk of breast cancer and offer medical follow-up to the families. (C) 1999 Elsevier Science Ltd. All rights reserved.
引用
收藏
页码:779 / 781
页数:3
相关论文
共 13 条
[1]  
Anderson TI, 1996, AM J HUM GENET, V59, P486
[2]   A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland [J].
Arason, A ;
Jonasdottir, A ;
Barkardottir, RB ;
Bergthorsson, JT ;
Teare, MD ;
Easton, DF ;
Egilsson, V .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (06) :446-449
[3]   Prognosis of 2,800 patients with epithelial ovarian cancer diagnosed during 1975-94 and treated at the Norwegian Radium Hospital [J].
Bjorge, T ;
Engeland, A ;
Sundfor, K ;
Trope, CG .
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 1998, 77 (07) :777-781
[4]   A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing [J].
Dorum, A ;
Moller, P ;
Kamsteeg, EJ ;
Scheffer, H ;
Burton, M ;
Heimdal, KR ;
Mæhle, LO ;
Hovig, E ;
Tropé, CG ;
van der Hout, AH ;
van der Meulen, MA ;
Buys, CHCM ;
Meerman, GJT .
EUROPEAN JOURNAL OF CANCER, 1997, 33 (14) :2390-2392
[5]   Early detection of familial ovarian cancer [J].
Dorum, A ;
Kristensen, GB ;
Abeler, VM ;
Trope, CG ;
Moller, P .
EUROPEAN JOURNAL OF CANCER, 1996, 32A (10) :1645-1651
[6]  
ENGELAND A, 1993, APMIS S38, V101, P61
[7]  
JACOBS I, 1988, BIOMED PHARMACOTHER, V42, P589
[8]  
Johannsson O, 1996, AM J HUM GENET, V58, P441
[9]   Oral contraceptives and the risk of hereditary ovarian cancer [J].
Narod, SA ;
Risch, H ;
Moslehi, R ;
Dorum, A ;
Neuhausen, S ;
Olsson, H ;
Provencher, D ;
Radice, P ;
Evans, G ;
Bishop, S ;
Brunet, JS ;
Ponder, BAJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1998, 339 (07) :424-428
[10]  
Peelen T, 1997, AM J HUM GENET, V60, P1041