P. Tonin et al., THE GENE FOR HEREDITARY BREAST-OVARIAN CANCER, BRCA1, MAPS DISTAL TO EDH17B2 IN CHROMOSOME REGION 17Q12-Q21, Human molecular genetics, 3(9), 1994, pp. 1679-1682
A gene for hereditary breast and ovarian cancer, BRCA1, has been mappe
d to chromosome 17q12 - q21. This gene is responsible for cancer susce
ptibility in the majority of families with multiple cases of ovarian c
ancer and early-onset breast cancer. We report linkage results of a fa
mily with 10 cases of breast cancer and a single case of ovarian cance
r. A recombinant event in this family places BRCA1 distal (telomeric)
to the locus EDH17B2, which codes for the enzyme estradiol 17 beta-deh
ydrogenase II. This recombinant is based on the appearance of breast c
ancer in a 45 year old woman. Under our genetic model, we estimate the
probability that this woman carries a BRCA1 mutation to be 94%. These
data further reduce the region of assignment of BRCA1 on chromosome 1
7q12 - q21 and should expedite positional cloning of this important ge
ne.