Human Molecular Genetics, Vol 6, 1513-1517, Copyright © 1997 by Oxford University Press
J Swensen, M Hoffman, MH Skolnick and SL Neuhausen
BRCA1 is a breast and ovarian cancer susceptibility gene. An inferred
germline regulatory mutation was previously reported in the BRCA1- linked
kindred K2035, based on the absence of transcripts from the BRCA1 allele
associated with the cancer susceptibility haplotype. In this study, the
promoter region of BRCA1 was examined in individuals from K2035 for
evidence of a mutation which could halt transcription. Evaluation of a
polymorphism located within intron 2 of BRCA1 gave results consistent with
the presence of a large deletion in K2035 mutation carriers. Southern blot
analysis identified unique restriction fragments which occurred as a result
of a 14 kb deletion that removed both of BRCA1's transcription start sites
(exons 1a and 1b) as well as exon 2. Sequencing indicated that unequal
crossover between Alu repeats was the likely cause of the deletion. Similar
deletions may be responsible for other reported inferred regulatory
mutations, as well as unidentified mutations in families linked to BRCA1.
ARTICLES
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family
Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City 84108, USA.
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