Hereditary Breast and Ovarian Cancer Syndrome: Moving Beyond BRCA1 and BRCA2.
Adv Anat Pathol
; 25(2): 85-95, 2018 Mar.
Article
em En
| MEDLINE
| ID: mdl-28914618
ABSTRACT
The recent implementation of next generation sequencing and multigene platforms has expanded the spectrum of hereditary breast and ovarian cancer syndrome, beyond the traditional genes BRCA1 and BRCA2. A large number of other moderate penetrance genes have now been uncovered, which also play critical roles in repairing double stranded DNA breaks through the homologous recombination pathway. This review discusses the landmark discoveries of BRCA1 and BRCA2, the homologous repair pathway and new genes discovered in hereditary breast and ovarian cancer syndrome, as well as their clinicopathologic significance and implications for genetic testing. It also highlights the new role of PARP inhibitors in the context of synthetic lethality and prophylactic surgical options.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteína BRCA1
/
Proteína BRCA2
/
Síndrome Hereditária de Câncer de Mama e Ovário
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article