Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
BRCA1
BRCA2
Breast cancer
Ethnicity
Race
Journal
Cancer causes & control : CCC
ISSN: 1573-7225
Titre abrégé: Cancer Causes Control
Pays: Netherlands
ID NLM: 9100846
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
17
06
2022
accepted:
24
10
2022
pubmed:
13
11
2022
medline:
28
1
2023
entrez:
12
11
2022
Statut:
ppublish
Résumé
The prevalence of pathogenic variants in BRCA1 and BRCA2 in populations other than Ashkenazi Jewish (AJ) is not well defined. We describe the racial and ethnic-specific prevalence of BRCA1/2 pathogenic variants and variants of uncertain significance (VUS) among individuals referred for genetic testing in a large urban comprehensive cancer center over a 20-year period. The population included 3,537 unrelated individuals who underwent genetic testing from January 1999 to October 2019 at the Karmanos Cancer Institute. We estimated the prevalence of pathogenic variants and VUS and evaluated associations with race and ethnicity for African American (AA), Arab, AJ and Hispanic individuals compared to Non-Hispanic Whites (NHW). We used multivariable models to adjust for other predictors of pathogenic variants. We also reported the most common pathogenic variants by racial and ethnic group. The racial and ethnic breakdown of our population was: NHW (68.9%), AA (20.3%), AJ (2.5%), Arab (2.2%), Hispanic (1.0%), Asian Pacific Islander, Native American/Alaskan Native (4.7%), and < 1% unknown. The overall prevalence of pathogenic variants in BRCA1/2 was 8.9% and the prevalence of VUS was 5.6%. Compared to NHW, there were no racial or ethnic differences in the rate of pathogenic variants. However, AA individuals were more likely to have VUS in BRCA1 (adjusted OR 2.43, 95% CI 1.38-4.28) and AJ were more likely to have VUS in BRCA2 (adjusted OR 3.50, 95% CI 1.61-6.58). These results suggest the continued need for genetic testing and variant reclassification for individuals of all racial and ethnic groups.
Identifiants
pubmed: 36370215
doi: 10.1007/s10552-022-01648-w
pii: 10.1007/s10552-022-01648-w
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
141-149Subventions
Organisme : Foundation for the National Institutes of Health
ID : P30CA022453
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Nature Switzerland AG.
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