Human Molecular Genetics, Vol 8, 889-897, Copyright © 1999 by Oxford University Press
SA Janezic, A Ziogas, LM Krumroy, M Krasner, SJ Plummer, P Cohen, M Gildea, D Barker, R Haile, G Casey and H Anton-Culver
The objective of this study was to provide more accurate frequency
estimates of breast cancer susceptibility gene 1 ( BRCA1 ) germline
alterations in the ovarian cancer population. To achieve this, we
determined the prevalence of BRCA1 alterations in a population-based series
of consecutive ovarian cancer cases. This is the first population-based
ovarian cancer study reporting BRCA1 alterations derived from a
comprehensive screen of the entire coding region. One hundred and seven
ovarian cancer cases were analyzed for BRCA1 alterations using the RNase
mismatch cleavage assay followed by direct sequencing. Two truncating
mutations, 962del4 and 3600del11, were identified. Both patients had a
family history of breast or ovarian cancer. Several novel as well as
previously reported uncharacterized variants were also identified, some of
which were associated with a family history of cancer. The frequency
distribution of common polymorphisms was determined in the 91 Caucasian
cancer cases in this series and 24 sister controls using allele-specific
amplification. The rare form of the Q356R polymorphism was significantly (
P = 0.03) associated with a family history of ovarian cancer, suggesting
that this polymorphism may influence ovarian cancer risk. In summary, our
data suggest a role for some uncharacterized variants and rare forms of
polymorphisms in determining ovarian cancer risk, and highlight the
necessity to screen for missense alterations as well as truncating
mutations in this population.
ARTICLES
Germline BRCA1 alterations in a population-based series of ovarian cancer cases
Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
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