Table 1

BRCA1 and BRCA2 mutations and cancer phenotype

GeneMutationNo of women in pedigreeNo of breast caAverage age at diagnosis of breast ca (y)No of ovarian caAverage age at diagnosis of ovarian ca (y)Breast and ovarian caBilateral breast ca
BRCA15382 ins C11343.3255.01
BRCA13780 (G→T)11145.0343.01
BRCA15382 ins C19242.5
BRCA12312 del 514446.3
BRCA1IVS5 + 3 (A→G)9235.5140.0
BRCA12312 del 524345.3
BRCA13668 (AG→T)7544.02
BRCA13726 (C→T)13129.0145.0
BRCA13131 del G3253.01
BRCA15382 ins C9145.0158.01
BRCA23034 del 413251.0156.01
BRCA26498 del TA8242.5
BRCA21617 del AG9343.71
BRCA26503 del TT19249.5149.01
Total16929Median: 4415Median: 47.635