Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
Breast Cancer Res Treat
; 193(1): 217-224, 2022 May.
Article
em En
| MEDLINE
| ID: mdl-35278150
ABSTRACT
PURPOSE:
BRCA1/2 founder pathogenic variants (PVs) occur in various populations, but data on the mutational spectrum in Africans are limited. We examined BRCA1/2 PVs in breast cancer patients of Ethiopian Jewish (EJ) origin.METHODS:
We retrospectively analyzed BRCA1/2 test results and clinical features of EJ breast cancer patients from seven medical institutions. We obtained heterozygote carrier rates in affected individuals from the laboratories of the largest Israeli HMO (Clalit). Population carrier frequency was determined in EJ controls.RESULTS:
We identified three recurrent BRCA2 PVs in 11 EJ breast cancer patients (9 females, 2 males) c.7579delG, c.5159C > A, and c.9693delA. Only c.5159C > A was previously reported in Africans. In women, mean age at diagnosis was 35.7y; 8/9 were diagnosed with advanced disease. All tumors were invasive, 4/9 were triple negative. Only 3/11 carriers had relevant family history. Carrier rate in high-risk breast cancer patients was 11% (3/28; 95%CI [2.3%, 28.2%]). Combined carrier rate among controls was 1.8% (5/280; 95%CI [0.6%, 4.1%]).CONCLUSION:
EJs harbor 3 recurrent BRCA2 PVs presenting with relatively severe breast cancer morbidity. Combined with the high BRCA2 carrier rate in the EJ population, these findings merit increasing awareness in this community and suggest that a culturally adapted population screening approach may be warranted.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
/
Judeus
/
Neoplasias da Mama Masculina
/
Proteína BRCA2
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
Breast Cancer Res Treat
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Israel