Highlights
- •Frequency of BRCA mutation in Asian ovarian cancer cases is similar to Caucasian.
- •Age should not be a criteria to screen BRCA mutation in Asian ovarian cancer cases.
- •Many mutation carriers in Asian ovarian cancer cases do not have family history.
Abstract
Objective
Despite the discovery of breast and ovarian cancer predisposition genes BRCA1 and BRCA2 more than two decades ago, almost all the available data relate to women of European
ancestry, with only a handful of studies in Asian populations. In this study, we determined
the frequency of germline alterations in BRCA1 and BRCA2 in ovarian cancer patients from a multi-ethnic cross-sectional cohort of Asian ovarian
cancer patients from Malaysia.
Methods
From October 2008 to February 2015, we established a hospital-based cohort of ovarian
cancer patients and the germline status of all 218 women with invasive epithelial
ovarian cancer was tested using targeted amplification and sequencing of the intron–exon
junctions and exonic sequences of BRCA1, BRCA2, PALB2 and TP53.
Results
BRCA1 and BRCA2 mutations were found in 8% (17 cases) and 3% (7 cases) of the ovarian cancer patients,
respectively. Mutation carriers were diagnosed at a similar age to non-carriers, but
were more likely to be Indian, have serous ovarian cancer, and have more relatives
with breast or ovarian cancer. Nonetheless, 42% (10/24) of mutation carriers did not
have any family history of breast or ovarian cancer and offering genetic counselling
and genetic testing only to women with family history would mean that 35% (6/17) of
BRCA1 mutation carriers and 57% (4/7) of BRCA2 mutation carriers would not be offered genetic testing.
Conclusions
Our data suggest that, similar to Caucasians, a significant proportion of Asian ovarian
cancer was attributed to germline mutations in BRCA1 and to a lesser extent in BRCA2.
Keywords
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Article info
Publication history
Published online: November 02, 2015
Accepted:
November 2,
2015
Received in revised form:
October 29,
2015
Received:
September 15,
2015
Identification
Copyright
© 2016 Published by Elsevier Inc.
