Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.
Breast Cancer Res Treat
; 182(2): 421-428, 2020 Jul.
Article
em En
| MEDLINE
| ID: mdl-32445176
ABSTRACT
PURPOSE:
Identification of inherited breast cancer may guide cancer risk management. We sought to compare risk management practices across women with inherited breast cancer genes.METHODS:
Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management. Comparisons were made across genes.RESULTS:
The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and 61% had a prior breast cancer diagnosis. For women with P/LP variants in BRCA1/2, PALB2, and ATM/CHEK2, bilateral mastectomy (BM) rates were 79%, 61%, and 52%, and bilateral oophorectomy (BO) rates were 89%, 30%, and 37%, respectively. Among women with P/LP variants in PALB2 and ATM/CHEK2, 27% of those who had a BO had a family history of ovarian cancer. Contralateral mastectomy rates for women with P/LP variants in PALB2 and ATM/CHEK2 with unilateral breast cancer were 60% and 58%, and BM rates for those without breast cancer were 57% and 29%, respectively.CONCLUSION:
These findings suggest high rates of both contralateral mastectomies among those with unilateral breast cancer and BM among those without a breast cancer diagnosis across women with P/LP variants in high and moderate penetrance breast cancer genes. BO was also often utilized for risk reduction across these women. These findings suggest potential overtreatment through risk-reducing surgery, and highlight the importance of promoting guideline-adherent, risk-appropriate care.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Padrões de Prática Médica
/
Neoplasias da Mama
/
Ovariectomia
/
Síndrome Hereditária de Câncer de Mama e Ovário
/
Mastectomia Profilática
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Guideline
/
Observational_studies
/
Prognostic_studies
/
Qualitative_research
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article