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Cancer genetics
Short report
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
  1. Roseline Vibert1,2,
  2. Jessica Le Gall1,3,
  3. Bruno Buecher1,2,
  4. Emmanuelle Mouret-Fourme1,2,
  5. Guillaume Bataillon2,4,
  6. Véronique Becette2,4,
  7. Olfa Trabelsi-Grati1,2,
  8. Virginie Moncoutier1,2,
  9. Catherine Dehainault1,2,
  10. Jennifer Carriere1,2,
  11. Mathias Schwartz1,2,
  12. Voreak Suybeng1,2,
  13. Ivan Bieche1,3,
  14. Chrystelle Colas1,2,
  15. Anne Vincent-Salomon2,4,
  16. Dominique Stoppa-Lyonnet1,3,5,
  17. Lisa Golmard1,2
  1. 1 Department of Genetics, Institut Curie, Paris, France
  2. 2 PSL Research University, Paris, France
  3. 3 Université de Paris, Paris, Île-de-France, France
  4. 4 Department of Pathology, Institut Curie, Paris, France
  5. 5 INSERM U830, Institut Curie, Paris, France
  1. Correspondence to Dr Roseline Vibert, Department of Genetics, Institut Curie, Paris, France; Roseline.VIBERT{at}aphp.fr

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 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.

  • Genetics

https://doi.org/10.1136/jmg-2022-108467

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    Footnotes

    • Twitter @RoselineVibert

    • Contributors RV, LG: Designed the study, acquired and analysed data, and wrote the manuscript. JLG, MS, VS: Germline interpretation. BB, EM-F, CC, DSL: Genetic counselling, patient care. GB, VB, AVS: Pathology analysis and β-catenin staining. OTG, IB: Tumour analysis. VM, CD, JC: Germline sequencing. All authors approved the final version and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.