A BCRA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

A. Dørum, P. Møller, E. J. Kamsteeg, H. Scheffer, M. Burton, K. R. Heimdal, L. O. Mæhle, Eivind Hovig, Claes G. Tropé, A. H. Van Der Hout, M. A. Van Der Meulen, C. H.C.M. Buys, G. J. Te Meerman

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

We searched for a founder mutation in a population from one geographic region of Norway with prevalent breast/ovarian cancer families. We sampled 33 breast/ovarian cancer families and determined haplotypes of four markers linked to the BRCA1 region. Of the affected 33 index women, 13 (39.4%) shared one haplotype. In five (15% of total), an identical mutation was indicated by an abnormal truncated protein test (PTT) of exon 11 and shown to represent a 1675delA mutation. In the other index women, PTT of exon 11 showed no abnormality. No other BRCA1 founder mutation of this prevalence is likely because no other haplotype was more frequent in affecteds than in controls. All families with the 1675delA mutation in this geographic region may be considered as part of one large kindred. This allows a genotype-phenotype correlation to be precisely determined and used in genetic counselling for predictive testing within this kindred. Identification of identical haplotypes between unrelated affected Individuals may be used to estimate the extent of founder effects for any mapped disease, without knowledge of the specific founder mutation.

Original languageEnglish (US)
Pages (from-to)2390-2392
Number of pages3
JournalEuropean Journal of Cancer
Volume33
Issue number14
DOIs
StatePublished - Dec 1 1997

Fingerprint

Haplotypes
Genotype
Phenotype
Mutation
Ovarian Neoplasms
Exons
Breast Neoplasms
Founder Effect
Genetic Counseling
Genetic Testing
Genetic Association Studies
Norway
Proteins
Population

Keywords

  • BRCA1
  • Familial breast cancers
  • Familial ovarian cancer
  • Haplotype analysis

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Dørum, A., Møller, P., Kamsteeg, E. J., Scheffer, H., Burton, M., Heimdal, K. R., ... Te Meerman, G. J. (1997). A BCRA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing. European Journal of Cancer, 33(14), 2390-2392. https://doi.org/10.1016/S0959-8049(97)00328-6

A BCRA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing. / Dørum, A.; Møller, P.; Kamsteeg, E. J.; Scheffer, H.; Burton, M.; Heimdal, K. R.; Mæhle, L. O.; Hovig, Eivind; Tropé, Claes G.; Van Der Hout, A. H.; Van Der Meulen, M. A.; Buys, C. H.C.M.; Te Meerman, G. J.

In: European Journal of Cancer, Vol. 33, No. 14, 01.12.1997, p. 2390-2392.

Research output: Contribution to journalArticle

Dørum, A, Møller, 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 & Te Meerman, GJ 1997, 'A BCRA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing', European Journal of Cancer, vol. 33, no. 14, pp. 2390-2392. https://doi.org/10.1016/S0959-8049(97)00328-6
Dørum, A. ; Møller, P. ; Kamsteeg, E. J. ; Scheffer, H. ; Burton, M. ; Heimdal, K. R. ; Mæhle, L. O. ; Hovig, Eivind ; Tropé, Claes G. ; Van Der Hout, A. H. ; Van Der Meulen, M. A. ; Buys, C. H.C.M. ; Te Meerman, G. J. / A BCRA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing. In: European Journal of Cancer. 1997 ; Vol. 33, No. 14. pp. 2390-2392.
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