Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Fiche publication
Date publication
août 2024
Journal
Cancer medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Dr GOUSSOT Vincent
Tous les auteurs :
Innella G, Fortuno C, Caleca L, Feng BJ, Carroll C, Parsons MT, Miccoli S, Montagna M, Calistri D, Cortesi L, Pasini B, Manoukian S, Giachino D, Matricardi L, Foti MC, Zampiga V, Piombino C, Barbieri E, Lutati FV, Azzolini J, Danesi R, Arcangeli V, Caputo SM, Boutry-Kryza N, Goussot V, Hiraki S, Richardson M, , Ferrari S, Radice P, Spurdle AB, Turchetti D
Lien Pubmed
Résumé
BRCA1:c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant classification in public databases is still conflicting, needing additional evidence.
Mots clés
BRCA1, breast cancer, cancer risk, classification, clinical management, ovarian cancer, penetrance, uterine cancer
Référence
Cancer Med. 2024 08;13(16):e70114