Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
Cancer Epidemiol Biomarkers Prev
; 31(8): 1593-1601, 2022 08 02.
Article
em En
| MEDLINE
| ID: mdl-35654374
ABSTRACT
BACKGROUND:
Risk estimates for women carrying germline mutations in breast cancer susceptibility genes are mainly based on studies of European ancestry women.METHODS:
We investigated associations between pathogenic variants (PV) in 34 genes with breast cancer risk in 871 cases [307 estrogen receptor (ER)-positive, 321 ER-negative, and 243 ER-unknown] and 1,563 controls in the Ghana Breast Health Study (GBHS), and estimated lifetime risk for carriers. We compared results with those for European, Asian, and African American ancestry women.RESULTS:
The frequency of PV in GBHS for nine breast cancer genes was 8.38% in cases and 1.22% in controls. Relative risk estimates for overall breast cancer were (OR, 13.70; 95% confidence interval (CI), 4.03-46.51) for BRCA1, (OR, 7.02; 95% CI, 3.17-15.54) for BRCA2, (OR, 17.25; 95% CI, 2.15-138.13) for PALB2, 5 cases and no controls carried TP53 PVs, and 2.10, (0.72-6.14) for moderate-risk genes combined (ATM, BARD1, CHEK2, RAD51C, RAD52D). These estimates were similar to those previously reported in other populations and were modified by ER status. No other genes evaluated had mutations associated at P < 0.05 with overall risk. The estimated lifetime risks for mutation carriers in BRCA1, BRCA2, and PALB2 and moderate-risk genes were 18.4%, 9.8%, 22.4%, and 3.1%, respectively, markedly lower than in Western populations with higher baseline risks.CONCLUSIONS:
We confirmed associations between PV and breast cancer risk in Ghanaian women and provide absolute risk estimates that could inform counseling in Ghana and other West African countries. IMPACT These findings have direct relevance for breast cancer genetic counseling for women in West Africa.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
/
Saude_da_mulher
/
Mama
/
Tipos_de_cancer
/
Mama
/
Outros_tipos
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Mama
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Mutação em Linhagem Germinativa
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Female
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Humans
País/Região como assunto:
Africa
Idioma:
En
Revista:
Cancer Epidemiol Biomarkers Prev
Assunto da revista:
BIOQUIMICA
/
EPIDEMIOLOGIA
/
NEOPLASIAS
Ano de publicação:
2022
Tipo de documento:
Article