Carney complex predisposes to breast cancer: prospective study of 50 women.

Autor:	Vaduva P; Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France., Violon F; Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France., Jouinot A; Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.; Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Cochin Hospital, APHP, Paris 75014, France., Bouys L; Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.; Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Cochin Hospital, APHP, Paris 75014, France., Espiard S; Department of Endocrinology, Diabetology, Metabolism and Nutrition, Lille University Hospital, University of Lille, Inserm 1190, Lille 59000, France., Bonnet-Serrano F; Department of Hormonology, Cochin Hospital, APHP, Paris 75014, France., North MO; Department of Oncogenetics, Cochin Hospital, APHP, Paris 75014, France., Cardot-Bauters C; Department of Endocrinology, Diabetology, Metabolism and Nutrition, Lille University Hospital, University of Lille, Inserm 1190, Lille 59000, France., Raverot G; Department of Endocrinology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron 69677, France., Hieronimus S; Department of Endocrinology, Diabetology, Reproductive medicine, Nice University Hospital, Nice 06200, France., Lefebvre H; Department of Endocrinology, Univ Rouen Normandie, INSERM, NORDIC UMR 1239, CHU Rouen, Rouen F-76000, France., Nunes ML; Department of Endocrinology, Diabetology and Metabolism, Bordeaux University Hospital, Pessac 33600, France., Tabarin A; Department of Endocrinology, Diabetology and Metabolism, Bordeaux University Hospital, Pessac 33600, France., Groussin L; Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.; Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Cochin Hospital, APHP, Paris 75014, France., Assié G; Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.; Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Cochin Hospital, APHP, Paris 75014, France., Sibony M; Department of Pathology, Cochin Hospital, APHP, Paris 75014, France., Vantyghem MC; Department of Endocrinology, Diabetology, Metabolism and Nutrition, Lille University Hospital, University of Lille, Inserm 1190, Lille 59000, France., Pasmant E; Department of Oncogenetics, Cochin Hospital, APHP, Paris 75014, France., Bertherat J; Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.; Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Cochin Hospital, APHP, Paris 75014, France.
Jazyk:	angličtina
Zdroj:	European journal of endocrinology [Eur J Endocrinol] 2024 Feb 01; Vol. 190 (2), pp. 121-129.
DOI:	10.1093/ejendo/lvae010
Abstrakt:	Objective: Carney complex (CNC) is a rare genetic syndrome, mostly due to germline loss-of-function pathogenic variants in PRKAR1A. Carney complex includes pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, and various breast benign tumors. Design: The present study was designed to describe the characteristics of breast lesions in CNC patients and their association with other manifestations of CNC and PRKAR1A genotype. Methods: A 3-year follow-up multicenter French prospective study of CNC patients included 50 women who were analyzed for CNC manifestations and particularly breast lesions, with breast imaging, genotyping, and hormonal settings. Results: Among the 38 women with breast imaging, 14 (39%) had breast lesions, half of them bilateral. Ten women (26%) presented with benign lesions and six with breast carcinomas (16%): one had ductal carcinoma in situ at 54, and five had invasive cancer before 50 years old, whom one with contralateral breast cancer during follow-up. The occurrence of breast cancer was more frequent in women with PRKAR1A pathogenic variant odds ratio = 6.34 (1.63-17.91) than in general population of same age. The mean age at breast cancer diagnosis was 44.7 years old: 17 years younger than in the general population. Breast cancer patients had good prognosis factors. All breast carcinomas occurred in individuals with familial CNC and PRKAR1A pathogenic variants. Loss of heterozygosity at the PRKAR1A locus in the 2 invasive breast carcinomas analyzed suggested a driver role of this tumor suppressor gene. Conclusions: As CNC could predispose to breast carcinoma, an adequate screening strategy and follow-up should be discussed in affected women. Clinical Trial Registration: ClinicalTrial.gov NCT00668291. Competing Interests: Conflict of interest: The authors have no conflict of interest to declare. Co-authors G.R. and G.A. are on the editorial board of EJE. They were not involved in the review or editorial process for this paper, on which they are listed as authors. (© The Author(s) 2024. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu