Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.
In a study of nine families with "site-specific" ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age < 50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive.
Department of Pathology, University of Cambridge.
E
E
Steichen-Gersdorf
H H
HH
Gallion
D
D
Ford
C
C
Girodet
D F
DF
Easton
R A
RA
DiCioccio
G
G
Evans
M A
MA
Ponder
C
C
Pye
S
S
Mazoyer
D019313:BRCA1 Protein; D002886:Chromosomes, Human, Pair 17; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*
D019313:BRCA1 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors