Highlights
- •Ovarian cancer genetic predisposition does not vary in White & Black patients.
- •Black & White patients have similar pathogenic germline mutation rates.
- •Germline BRCA1/BRCA2 mutations provided a progression free advantage.
- •Germline BRCA1/BRCA2 mutations provided an overall survival advantage.
- •Offer genetic testing to all patients with ovarian cancer, regardless of race.
Abstract
Objective
Routine genetic testing for ovarian cancer and identification of germline mutations
can help improve early detection of cancer as well as guide treatment. Knowledge of
genetic counseling and referral rates for genetic testing has been lower for Black
patients, compared to White patients. We aimed to describe the demographics and presence
of germline mutations in Black individuals with ovarian, fallopian tube or peritoneal
carcinoma at two large academic institutions.
Methods
Fifty-one Black patients with invasive epithelial ovarian, fallopian tube, or primary
peritoneal carcinoma were identified via institutional tissue banks over a 20-year
time-period. Germline DNA was sequenced using BROCA, a targeted capture and parallel
sequencing assay that identified pathogenic germline mutations in ovarian carcinoma
susceptibility genes.
Results
Germline mutations in ovarian cancer susceptibility genes were found in 25.5% of women,
most commonly BRCA1 and BRCA2. This mutation frequency mirrors those previously described among predominantly White
populations. Our data suggests there may be an advantage in survival among those with
germline mutations, although this was not statistically significant.
Conclusions
Given similar frequencies of germline mutations between Black and White patients with
ovarian cancer, we conclude that there are not major differences in the genetic predisposition
to ovarian carcinoma. Equitable access to genomic advancements including germline
and tumor sequencing would facilitate equal access to PARP inhibitors, the standard
of care for patients with BRCA mutated advanced ovarian cancer.
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Article info
Publication history
Published online: August 24, 2021
Accepted:
August 17,
2021
Received in revised form:
August 3,
2021
Received:
May 4,
2021
Identification
Copyright
© 2021 Published by Elsevier Inc.
