APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
J Med Genet
; 60(5): 460-463, 2023 05.
Article
en En
| MEDLINE
| ID: mdl-36270768
ABSTRACT
APC germline pathogenic variants result in predisposition to familial adenomatous polyposis and extraintestinal tumours such as desmoid fibromatosis, medulloblastomas and thyroid cancers. They have also been recently involved in ovarian microcystic stromal tumours. APC inactivation has been described at the tumour level in epithelial ovarian cancers (EOCs). Here, we report the identification of APC germline pathogenic variants in two patients diagnosed with premenopausal EOC in early 30s, with no other pathogenic variant detected in the known ovarian cancer predisposing genes. Subsequent tumour analysis showed neither a second hit of APC inactivation nor ß-catenin activation. Both tumours did not have a homologous recombination (HR) deficiency, pointing towards the implication of other genes than those involved in HR. APC may contribute to the carcinogenesis of EOC in a multifactorial context. Further studies are required to clarify the role of APC in predisposition to EOC.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
/
Genes APC
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Carcinoma Epitelial de Ovario
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
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Female
/
Humans
Idioma:
En
Revista:
J Med Genet
Año:
2023
Tipo del documento:
Article
País de afiliación:
Francia