- •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.
Describe patient characteristics in African American (AA) women seen for gynecologic cancer related genetic counseling at a large southeastern comprehensive cancer center.
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.
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).
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.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Gynecologic Oncology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Cancer statistics.CA Cancer J. Clin. 2017; 67: 7-30
- Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.Proc. Natl. Acad. Sci. U. S. A. 2011; 108: 18032-18037
- Inherited mutations in women with ovarian carcinoma.JAMA Oncol. 2016; 2: 482-490
- Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.Gynecol. Oncol. 2015; 137: 86-92
- Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.Cancer. 2015; 121: 25-33
- Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment.JAMA Oncol. 2015; 1: 943-951
- Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers.BMC Womens Health. 2014; 14: 150
- Gynecologic cancer disparities: a report from the Health Disparities Taskforce of the Society of Gynecologic Oncology.Gynecol. Oncol. 2014; 133: 353-361
- Racial disparities in cancer survival among randomized clinical trials patients of the Southwest Oncology Group.J. Natl. Cancer Inst. 2009; 101: 984-992
- Racial health disparities in ovarian cancer: not just black and white.J. Ovarian Res. 2017; 10: 58
- Global ovarian cancer health disparities.Gynecol. Oncol. 2013; 129: 258-264
- Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer.JAMA. 2005; 293: 1729-1736
- Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer.Breast J. 2009; : S56-62
- BRCA sequencing and large rearrangement testing in young Black women with breast cancer.J Community Genet. 2014; 5: 157-165
- Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.Breast J. 2013; 19: 189-192
- Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.Ann. Surg. Oncol. 2013; 20: 3254-3258
- Recruitment, genetic counseling, and BRCA testing for underserved women at a public hospital.Genet. Test. 2005; 9: 306-312
- Predictors of BRCA1/2 genetic testing among Black women with breast cancer: a population-based study.Cancer Med. 2017; 6: 1787-1798
- Receipt of genetic counseling recommendations among black women at high risk for BRCA mutations.Genet. Test. Mol. Biomarkers. 2012; 16: 1257-1262
Published online: February 24, 2018
Accepted: February 18, 2018
Received in revised form: February 5, 2018
Received: November 28, 2017
© 2018 Elsevier Inc. All rights reserved.