BRCA1 and BRCA2 Mutations in Ovarian cancer Patients

Abstract

Background: To find the frequency of germ line BRCAgene mutations among our patients with
epithelial ovarian cancer, unselected for age and family history of cancer.
Methods: Atotal of 75 women with histologically proven epithelial ovarian cancer were accrued
and 20 cc of peripheral blood sample was collected from each subject and sent to the molecular
laboratory of Sunnybrook and women's college Health Science centre in Toronto, Canada for
detection of BRCAgenes.
Results: TBRCA 1 & 2 genes mutations were found in 9 (12%) patients. BRCA 1 mutation was
more common found in eight (88.8%) patients as compared to BRCA2 in 1(11.2%) patient. Out of
9, six mutations were unique to our subjects and remaining three have also been reported in
Dutch and Belgian families. All but one BRCA 1 mutation were found in exon 11. BRCA gene
mutation was detected in 35.7% patients of with positive family history of breast and ovarian
cancer. All four patients who had ovarian cancer as a second malignancy after breast cancer were
positive for BRCAmutation.
Conclusions: The frequency of ovarian cancer in our patients is comparable to what has been
reported in Western literature. The correlation between family history and probability of finding
gene mutation in these patients can be used to identify the families to be tested for the gene
mutations. Genetic testing can identify women and their families at increased risk of ovarian
cancer.