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Akademický článek

Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias

Autor: Raphaelle D. Vallera, Yanli Ding, Kimmo J. Hatanpaa, Justin A. Bishop, Sasan Mirfakhraee, Abdel A. Alli, Sergei G. Tevosian, Mouna Tabebi, Oliver Gimm, Peter Söderkvist, Cynthia Estrada-Zuniga, Patricia L. M. Dahia, Hans K. Ghayee

Publikováno v: Frontiers in Endocrinology, Vol 13 (2022)

Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions. Cases of two sisters carrying a germline

Externí odkaz: https://doaj.org/article/0dd7056bb2134495ad2e44dcbc99498e

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Akademický článek

Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B

Autor: Catherine Cardot Bauters, Emmanuelle Leteurtre, Bruno Carnaille, Christine Do Cao, Stéphanie Espiard, Malo Penven, Evelyne Destailleur, Isabelle Szuster, Tonio Lovecchio, Julie Leclerc, Fredéric Frénois, Emmanuel Esquivel, Patricia L M Dahia, Emilie Ait-Yahya, Michel Crépin, Pascal Pigny

Publikováno v: Endocrine Connections, Vol 9, Iss 10, Pp 1042-1050 (2020)

Objective: We previously described a family in which predisposition to pheochromocytoma (PCC) segregates with a germline heterozygous KIF1B nucleotide variant (c.4442G>A, p.Ser1481Asn) in three generations. During the clinical follow-up, one proband�

Externí odkaz: https://doaj.org/article/ca41063f169c4c678438ac8529d46395

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Akademický článek

Author Correction: Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment

Autor: Magnus Zethoven, Luciano Martelotto, Andrew Pattison, Blake Bowen, Shiva Balachander, Aidan Flynn, Fernando J. Rossello, Annette Hogg, Julie A. Miller, Zdenek Frysak, Sean Grimmond, Lauren Fishbein, Arthur S. Tischler, Anthony J. Gill, Rodney J. Hicks, Patricia L. M. Dahia, Roderick Clifton-Bligh, Karel Pacak, Richard W. Tothill

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)

Externí odkaz: https://doaj.org/article/56140e586eb74a618cc4de0a83e0dae1

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Akademický článek

The tumor suppressor TMEM127 regulates insulin sensitivity in a tissue-specific manner

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

TMEM127 is a tumor suppressor protein, loss of which predisposes to catecholamine-secreting tumors. Here the authors show that TMEM127 expression is modulated by nutritional status and that it has a role in regulating organismal insulin sensitivity.

Externí odkaz: https://doaj.org/article/759408e47c5a4d35885debb0d56f6eb3

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Hypoxia-Inducible Factor 2 Alpha (HIF2α) Inhibitors: Targeting Genetically Driven Tumor Hypoxia

Autor: Rodrigo A Toledo, Camilo Jimenez, Gustavo Armaiz-Pena, Carlota Arenillas, Jaume Capdevila, Patricia L M Dahia

Publikováno v: Endocr Rev

Tumors driven by deficiency of the VHL gene product, which is involved in degradation of the hypoxia-inducible factor subunit 2 alpha (HIF2α), are natural candidates for targeted inhibition of this pathway. Belzutifan, a highly specific and well-tol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40498532fd48a0c27873eccb48cfec46
https://doi.org/10.1210/endrev/bnac025

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Data from MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Autor: Mercedes Robledo, Anne-Paule Gimenez-Roqueplo, Graeme Eisenhofer, Giuseppe Opocher, Patricia L. M. Dahia, Massimo Mannelli, Karel Pacak, Felix Beuschlein, Miguel Urioste, Carli M.J. Tops, Henri J.L.M. Timmers, Elisa Taschin, Carlos Suarez, Alexander P.A. Stegmann, Frank Schillo, Macarena Ruiz-Ferrer, Giovanna Roncador, Nicole Reisch, Victoria Raymond, Elena Rapizzi, Nan Qin, Miguel Quesada-Charneco, Tamara Prodanov, Pierre-François Plouin, Peggy Pierre, Arnaud Murat, Luigi Mori, Anna Merlo, Arjen R. Mensenkamp, Rocío Letón, Jacques W.M. Lenders, Esther Korpershoek, Emiliano Honrado, Frederik J. Hes, Isabelle Guilhem, Álvaro Gómez-Graña, Encarna B. Gómez-García, Xavier Girerd, Tonino Ercolino, Ronald R. de Krijger, Mara Giacchè, Eleonora P.M. Corssmit, María-Dolores Chiara, Philippe Chanson, Maurizio Castellano, Salud Borrego, Sara Bobisse, Marinus J. Blok, Yves-Jean Bignon, Jérôme Bertherat, Sandra Bernaldo de Quirós, Marta Barontini, Laurence Amar, Aguirre A. de Cubas, Lucía Inglada-Pérez, Nasséra Abermil, Iñaki Comino-Méndez, Nicole Paes Morales, Francesca Schiavi, Alberto Cascón, Nelly Burnichon

Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e186187a379b455e8e5d962b4e1b154
https://doi.org/10.1158/1078-0432.c.6520958.v1

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Update on the genetics of paragangliomas

Autor: Anne-Paule Gimenez-Roqueplo, Mercedes Robledo, Patricia L M Dahia

Publikováno v: Endocrine-Related Cancer. 30

Paragangliomas (PGL) of the adrenal (also known as pheochromocytomas) or extra-adrenal neural crest-derived cells are highly heritable tumors, usually driven by single pathogenic variants that occur mutually exclusively in genes involved in multiple

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::328fe5e30c187369e6038c9e0c061eb4
https://doi.org/10.1530/erc-22-0373

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