Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families.
- V Laplace-Marieze
- N Presneau
- V Sylvain
- F Kwiatkowski
- A Lortholary
- A Hardouin
- Y J Bignon
Affiliations: Laboratory of Molecular Oncology, INSERM CRI 9502/EA 2145, 63011 Clermont-Ferrand Cedex 1, France.
- Published online on: May 1, 1999 https://doi.org/10.3892/ijo.14.5.971
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Seventy French high-risk families were screened for germ-line BRCA-1 mutations. The BRCA-1 coding region and the exon-intron boundaries were sequenced, except when pre-screening by PTT revealed a truncated protein in exon 11. Germ-line BRCA-1 mutations were detected in 24% of families. The number of breast and ovarian cancers per family, a relative young age at ovarian cancer diagnosis, and the occurrence of breast and ovarian cancer in the same patient significantly predicted the presence of a BRCA-1 mutation. The low BRCA-1 mutation frequency suggested that some alterations were not detected and some families were probably BRCA-2 or BRCAx carriers.