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Co-occurrence of germline BRCA1 and CDH1 pathogenic variants
  1. Marie-Charlotte Villy1,2,
  2. Emmanuelle Mouret-Fourme2,3,
  3. Lisa Golmard1,2,
  4. Véronique Becette2,4,
  5. Nasrine Callet2,5,
  6. Gilles Marx2,6,
  7. Chrystelle Colas1,3,
  8. Dominique Lamarque2,5,
  9. Etienne Rouleau1,7,
  10. Dominique Stoppa-Lyonnet1,8
  1. 1 Department of Genetics, Institut Curie, Paris, France
  2. 2 PSL University, Paris, Île-de-France, France
  3. 3 Department of Genetics, Institut Curie, Saint-Cloud, France
  4. 4 Department of Pathology, Institut Curie, Saint-Cloud, France
  5. 5 Department of Medical Oncology, Institut Curie, Saint-Cloud, France
  6. 6 Psycho-oncology Unit, Institut Curie, Saint-Cloud, France
  7. 7 Department of Tumor Genetics, Gustave Roussy, Villejuif, France
  8. 8 Université de Paris, Paris, Île-de-France, France
  1. Correspondence to Dr Emmanuelle Mouret-Fourme, Institut Curie, Paris 75005, France; emmanuelle.fourme{at}


Introduction: We report a very rare case of familial breast cancer and diffuse gastric cancer, with germline pathogenic variants in both BRCA1 and CDH1 genes. To the best of our knowledge, this is the first report of such an association.

Family description: The proband is a woman diagnosed with breast cancer at the age of 52 years. She requested genetic counselling in 2012, at the age of 91 years, because of a history of breast cancer in her daughter, her sister, her niece and her paternal grandmother and was therefore concerned about her relatives. Her sister and maternal aunt also had gastric cancer. She was tested for several genes associated with hereditary breast cancer.

Results: A large deletion of BRCA1 from exons 1 to 7 and two CDH1 pathogenic cis variants were identified.

Conclusion: This complex situation is challenging for genetic counselling and management of at-risk individuals.

  • cancer: breast
  • cancer: gastric
  • clinical genetics
  • genetic screening/counselling
  • molecular genetics

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  • Contributors M-CV and EM-F designed the project under the supervision of DS-L. M-CV and CC collected the genetic data. EM-F and GM collected the familial data. NC collected the gynaecologic data. DS-L collected the gastroenterological data. EM-F obtained the proband’s written consent for publication. LG and ER analysed the molecular genetic data. VB analysed the histological data. LG and M-CV performed the statistical analysis on the TCGA data. M-CV and EM-F wrote the manuscript. M-CV and VB designed the figures. All authors revised the manuscript critically and approved the version of the manuscript to be published.

  • 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.