1. Clinical implications of CTNNA1 germline mutations in asymptomatic carriers
- Author
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Yann Parc, Isabelle Coupier, Erell Guillerm, Jerôme Bellanger, Aurélie Maran Gonzalez, Magali Svrcek, Jeanne Netter, Jérôme Alexandre Denis, Chrystelle Colas, Mathilde Warcoin, A. Mourregot, Mohamed Zizi, Florent Soubrier, Florence Coulet, Axelle Canard, Mélanie Eyries, Hélène Delhomelle, Véronica Cusin, Patrick R. Benusiglio, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de chirurgie générale et digestive [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Curie [Paris], Service d'anatomie et cytologie pathologiques [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Gastroentérologie et nutrition [CHU Saint-Antoine], Sorbonne Université (SU), Institut du Cancer de Montpellier (ICM), Service de Biochimie Endocrinienne et Oncologie [CHU Pitié-Salpêtrière], CHU Montpellier, and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
- Subjects
Male ,Cancer Research ,medicine.medical_treatment ,medicine.disease_cause ,Gastroenterology ,Germline ,0302 clinical medicine ,Surgical oncology ,Mutation ,General Medicine ,Middle Aged ,Prognosis ,3. Good health ,Pedigree ,Oncology ,030220 oncology & carcinogenesis ,030211 gastroenterology & hepatology ,Female ,Hereditary diffuse gastric cancer ,Adult ,medicine.medical_specialty ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,03 medical and health sciences ,Germline mutation ,Gastrectomy ,Stomach Neoplasms ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Germ-Line Mutation ,Retrospective Studies ,Diffuse gastric cancer ,CDH1 ,business.industry ,Signet-ring cell ,Cancer ,[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology ,medicine.disease ,Hereditary cancer ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Asymptomatic Diseases ,CTNNA1 ,business ,Asymptomatic carrier ,Carcinoma, Signet Ring Cell ,alpha Catenin ,Follow-Up Studies - Abstract
International audience; In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in an asymptomatic carrier after a normal upper endoscopy. Diffuse gastric cancer foci with loss of catenin alpha-1 expression were seen in the resected tissue, suggesting that CTNNA1 and CDH1 germline mutations behave in a similar manner. Life-changing prophylactic total gastrectomy should therefore also be considered in CTNNA1 mutation carriers.
- Published
- 2019
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