Fiche publication
Date publication
octobre 2022
Journal
Digestive diseases and sciences
Auteurs
Membres identifiés du Cancéropôle Est :
Dr LIMACHER Jean-Marc
Tous les auteurs :
Baz M, Gondran-Teiller V, Bressac B, Cabaret O, Fievet A, Dimaria M, Goldbarg V, Colas C, Bonnet-Dupeyron MN, Tinat J, Lebrun M, Mari V, Limacher JM, Corsini C, Ginglinger E, Saurin JC, Brahimi A, Rouzier C, Giraud S, Schuster H, Hollebecque A, Boige V, Cauchin E, Malka D, Caron O, Rouleau E
Lien Pubmed
Résumé
Germline DNA alterations affecting homologous recombination pathway genes have been associated with pancreatic cancer (PC) risk. BRCA2 is the most studied gene and affects the management of PC patients and their families. Even though recent reports have suggested a similar role of germline ATM pathogenic variants (PV) in familial PC, there is still a disagreement between experts on how it could affect patient management given the lack of proper PC risk estimates. We retrospectively analyzed the germline data of 257 PC patients among whom nearly 50% were sporadic cases. We showed similar frequencies of BRCA2 (4.9%) and ATM (4.4%) PV or likely pathogenic variants, which were not related to familial history. Based on our findings and that of the literature, we suggest including ATM gene among the panel of genes analyzed in PC patients pending the publication of prospective studies.
Mots clés
Germline DNA, Hereditary cancer, Homologous recombination pathway, Next generation sequencing, Pancreatic cancer
Référence
Dig Dis Sci. 2022 10 31;:
