Highlights
- •Knowledge of cancer related germline mutations in African American women is limited.
- •African Americans are underrepresented in genetic cancer risk assessment clinics.
- •Compared to white women, African Americans show similar rates of pathogenic variants.
Abstract
Objectives
Describe patient characteristics in African American (AA) women seen for gynecologic
cancer related genetic counseling at a large southeastern comprehensive cancer center.
Methods
We reviewed an IRB approved, prospective observational cohort of patients from a Gynecologic
Cancer Risk Assessment Clinic. Data evaluated included personal cancer history, family
history, frequency of genetic testing, frequency/type of genetic mutations, and frequency
of surgical intervention. Standard statistical statistics were utilized.
Results
1227 patients were evaluated from 2003 to 2015, of which 95 (7.7%) were AA. Sixteen
patients had a personal history of ovarian cancer. 21 women (22%) underwent genetic
counseling only; subsequent genetic testing was not recommended based on absence of
risk factors. Of the seventy-four AA patients in whom genetic testing was recommended,
sixty-six (69.5%) completed testing. Of women tested, 37 (56%) had abnormal results.
Eight and 14 patients had pathogenic variants in BRCA1 and BRCA2, respectively. Two were found to have pathogenic PALB2 variants; one had a pathogenic ATM variant and one constitutional MLH1 epimutation case was identified. Eleven had BRCA variants of uncertain significance. Of the patients with abnormal testing, six of
22 women with pathogenic BRCA variants underwent risk-reducing salpingo-oophorectomy (RRSO).
Conclusions
Our study demonstrates that in a region where AAs represent 27% of the population,
the proportion of AA patients referred to a Gynecologic Cancer Risk Assessment Clinic
remains low. Pathogenic variant and variant of uncertain significance rates were high
in patients tested, likely representing a selection bias of high-risk patients. Endeavors
should continue to identify minorities at risk for ovarian cancer and institute measures
to provide thorough genetic counseling and testing.
Keywords
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Article info
Publication history
Published online: February 24, 2018
Accepted:
February 18,
2018
Received in revised form:
February 5,
2018
Received:
November 28,
2017
Identification
Copyright
© 2018 Elsevier Inc. All rights reserved.
