APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?

Autor:	Vibert R; Department of Genetics, Institut Curie, Paris, France Roseline.VIBERT@aphp.fr.; PSL Research University, Paris, France., Le Gall J; Department of Genetics, Institut Curie, Paris, France.; Université de Paris, Paris, Île-de-France, France., Buecher B; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Mouret-Fourme E; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Bataillon G; PSL Research University, Paris, France.; Department of Pathology, Institut Curie, Paris, France., Becette V; PSL Research University, Paris, France.; Department of Pathology, Institut Curie, Paris, France., Trabelsi-Grati O; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Moncoutier V; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Dehainault C; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Carriere J; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Schwartz M; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Suybeng V; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Bieche I; Department of Genetics, Institut Curie, Paris, France.; Université de Paris, Paris, Île-de-France, France., Colas C; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Vincent-Salomon A; PSL Research University, Paris, France.; Department of Pathology, Institut Curie, Paris, France., Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France.; Université de Paris, Paris, Île-de-France, France.; INSERM U830, Institut Curie, Paris, France., Golmard L; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France.
Jazyk:	angličtina
Zdroj:	Journal of medical genetics [J Med Genet] 2023 May; Vol. 60 (5), pp. 460-463. Date of Electronic Publication: 2022 Oct 21.
DOI:	10.1136/jmg-2022-108467
Abstrakt:	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 β-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. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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