Clinical implications of CTNNA1 germline mutations in asymptomatic carriers

Autor: 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
Přispěvatelé: 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, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
Jazyk: angličtina
Rok vydání: 2019
Předmět:
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
Zdroj: Gastric Cancer
Gastric Cancer, Springer Verlag (Germany), 2019, 22 (4), pp.899-903. ⟨10.1007/s10120-018-00907-7⟩
ISSN: 1436-3291
DOI: 10.1007/s10120-018-00907-7⟩
Popis: 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.
Databáze: OpenAIRE
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