Article
A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing.
European journal of cancer (Oxford, England : 1990) - 1 Dec 1997
Dørum A, Møller P, Kamsteeg E J, Scheffer H, Burton M, Heimdal K R, Maehle L O, Hovig E, Tropé C G, van der Hout A H, van der Meulen M A, Buys C H, te Meerman G J
Abstract excerpt
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...
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