V. Laplace-marieze et al., Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families, INT J ONCOL, 14(5), 1999, pp. 971-977
Seventy French high-risk families were screened for germ-line BRCA-1 mutati
ons. 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 can
cer 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.