The Incidental Renal Mass- Update on Characterization and Management

Autor: John J. Hines, Riya Goyal, Katherine Eacobacci

Publikováno v: Radiologic Clinics of North America. 59:631-646

Renal masses are commonly encountered on cross-sectional imaging examinations performed for nonrenal indications. Although most can be dismissed as benign cysts, a subset will be either indeterminate or suspicious; in many cases, imaging cannot be us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22e0efe1b6aec46bfb535aa91cadf181
https://doi.org/10.1016/j.rcl.2021.03.011

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

Autor: Michelle M. Axford, Ron Agatep, Marcos Clavier, Stacey Hume, Elizabeth Spriggs, Andrea K Vaags, George S. Charames, Harriet Feilotter, Nicholas A. Watkins, Amanda C. Smith, Tracy Tucker, Matthew S. Lebo, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Ian Bosdet, Mohammad R. Akbari, William D. Foulkes, Chloe Mighton, Sean S. Young, Lorena Lazo de la Vega, Talia Silver, Ryan E. Lamont, Laura Semenuk, Robert Tomaszewski, Christian R. Marshall, Nancy Hamel, Justin Mayers, Henry K. Wong, Jillian S. Parboosingh, Marsha Speevak, Aly Karsan, George Chong, Sherryl Taylor

Publikováno v: J Med Genet

BackgroundThis study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing and interpre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e79c0e1de128d207d5bd72db07f48359
https://doi.org/10.1136/jmedgenet-2021-107738

Evaluating the impact ofin silicopredictors on clinical variant classification

Autor: Emma H. Wilcox, Heidi L. Rehm, Ahmad N. Abou Tayoun, Mahdi Sarmady, Leslie G. Biesecker, Matthew Wright, Bryan Wulf

BackgroundIn silicoevidence is important to consider when interpreting genetic variants. According to the ACMG/AMP,in silicoevidence is applied at the supporting strength level using the PP3 and BP4 criteria, for pathogenic and benign evidence, respe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9cfdbb54ebf824e3af9ab64ceaac2848
https://doi.org/10.1101/2021.08.09.455612

A synonymous variant in GCK gene as a cause of gestational diabetes mellitus

Autor: Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov

Publikováno v: Сахарный диабет, Vol 22, Iss 2, Pp 165-169 (2019)

The diagnosis of MODY as a subtype of gestational diabetes mellitus (GDM) is important for an adequate management during pregnancy and the postnatal period. The present report describes a case of GDM caused by a synonymous с.666C>G р.V222V substitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::062a84c60f9e66dd3ebac7af62e92db2
https://doi.org/10.14341/dm9938

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Autor: Marie-Noëlle Bonnet-Dupeyron, Helene Dreyfus, Nadia Boutry-Kryza, Cornel Popovici, Laurent Castera, Nancy Uhrhammer, Anthony Laugé, Yves-Jean Bignon, Hélène Delhomelle, Alice Fiévet, Christophe Guy, Noémie Bronnec, Bruno Buecher, Fabienne Prieur, Sophie Demontety, Vincent Goussot, Emmanuelle Mouret-Fourme, Claire Saule, Helene Zattara, Sarah Malsa, Paul Gesta, Cindy Meira, Erell Guillerm, Isabelle Turbiez, Agathe Ricou, Mélanie Léoné, Pierre Vande Perre, Sarab Lizard, Pascaline Berthet, Norbert Lignon, Adrien Buisson, Anne-Marie Birot, Philippe Denizeau, Etienne Rouleau, Odile Cohen-Haguenauer, Veronica Goldbarg, Virginie Moncoutier, Charlotte Benigni, Emmanuelle Barouk-Simonet, Flavie Boulouard, Caroline Jacquot-Sawka, Alice Yvard, Hakima Lallaoui, Veronica Cusin, Angélina Legros, Muriel Belotti, Christine Maugard, Marine Guillaud-Bataille, Jean-Marc Limacher, Marion Gauthier-Villars, Louise Crivelli, Afane Brahimi, Odile Cabaret, Ophelie Bertrand, Michel Longy, Gabrielle Le Guyadec, Doriane Livon, Amelie Bloucard, Dominique Stoppa-Lyonnet, Capucine Delnatte, Caroline Lecerf, Jennifer Carriere, Virginie Guibert, Véronique Mari, Anne-Sophie Allary, Florence Coulet, Françoise Bonnet, Paul Vilquin, Noémie Basset, Khadija Abidallah, Pierre Macquere, Nicolas Derive, Manon Boulaire, Stephanie Chieze-Valéro, Marine Le Mentec, Mathilde Gay-Bellile, Anne-Laure Conoy, Henri Margot, Pierre Devulder, Mathias Schwartz, Isabelle Tennevet, Stéphane Bézieau, Francesca Damiola, Violaine Bourdon, Audrey Mailliez, Zoe Nevière, Nicolas Viellard, Laurence Venat, Antoine De Pauw, Brigitte Bressac-de Paillerets, Agnès Hardouin, Sofiane Lacoste, Sandra Fert-Ferrer, Maud Privat, Helene Larbre, Dominique Vaur, Etienne Muller, Françoise Revillion, Clémentine Legrand, Rosette Lidereau, Laurence Gladieff, Sabine Raad, Jean Chiesa, Diane Molière, Ahmed Bouras, Nicolas Sevenet, Patrick R. Benusiglio, Sophie Giraud, Christine Toulas, Voreak Suybeng, Florine Oca, Tetsuro Noguchi, Catherine Dehainault, Sophie Lejeune, Céline Heude, Catherine Dubois d’Enghein, Thien-vu Nguyen Minh Tuan, Olivier Caron, Mathilde Warcoin, Christine Lasset, Claude Houdayer, Jessica Moretta-Serra, Julie Tinat, Hagay Sobol, Natalie Jones, Fanny Brayotel, Anne Fajac, Virginie Bubien, Maud Blanluet, Jean-Marc Rey, Anne Durlach, Sandrine M. Caputo, Isabelle Coupier, Fatoumata Simaga, Sophie Krieger, Catherine Noguès, Fabrice Airaud, Robin Fouillet, Celine Garrec, Valérie Bonadona, Julie Menjard, Bérengère Legendre, Chrystelle Colas, Christelle Berthemin, Camille Cohen, Caroline Abadie, Olivier Ingster, Audrey Remenieras, Anaïs Dupré, Jessica Le Gall, Lisa Golmard, Marie Bidart, Henrique Tenreiro, J Bombled, Marie-Charlotte Villy, Marie-Agnès Collonge-Rame, Sophie Dussart, Alain Lortholary, Lucie Salle, Samira Fekairi

Publikováno v: Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dafdf5194001f759e2968c0631e77f95
https://pubmed.ncbi.nlm.nih.gov/34597585