Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families.
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.
Laplace-Marieze
V
V
Laboratory of Molecular Oncology, INSERM CRI 9502/EA 2145, 63011 Clermont-Ferrand Cedex 1, France.
Presneau
N
N
Sylvain
V
V
Kwiatkowski
F
F
Lortholary
A
A
Hardouin
A
A
Bignon
Y J
YJ
D000328:Adult; D000483:Alleles; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
D019313:BRCA1 Protein