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Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP
  1. Arnaud Lagarde1,
  2. Etienne Rouleau2,
  3. Anthony Ferrari1,3,
  4. Tetsuro Noguchi3,
  5. Jinghua Qiu3,
  6. Adrien Briaux2,
  7. Violaine Bourdon3,
  8. Virginie Rémy3,
  9. Pascaline Gaildrat4,
  10. José Adélaïde1,3,
  11. Daniel Birnbaum1,3,
  12. Rosette Lidereau2,
  13. Hagay Sobol3,5,
  14. Sylviane Olschwang1,3
  1. 1Centre de Recherche en Cancérologie de Marseille INSERM UMR891, Marseille, France
  2. 2Centre René-Huguenin, Saint-Cloud, France
  3. 3Institut Paoli-Calmettes, Marseille, France
  4. 4INSERM U614, France
  5. 5Université Aix-Marseille II, Marseille, France
  1. Correspondence to Dr Sylviane Olschwang, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille, 232 boulevard Sainte-Marguerite, Marseille 13009, France; Sylviane.olschwang{at}inserm.fr

Abstract

Heterozygous APC germline alteration is responsible for familial adenomatous polyposis, a colon cancer predisposition with almost complete penetrance. Point mutations generally lead to truncated proteins or no protein at all. They mainly involve exon 3 to codon 1700 (exon 15). The work presented here delineates precisely the APC mutation spectrum from 15 years of systematic molecular screening which identified 863 independent alterations in the French population.

  • APC gene
  • germline mutation
  • familial adenomatous polyposis
  • mutation spectrum
  • genomic rearrangements
  • genetic screening/counselling
  • molecular genetics
  • cancer: colon

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Footnotes

  • Funding INCa, INSERM.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the St-Antoine Hospital, Paris France.

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

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