Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Autor: Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomäki, Irene L. Andrulis, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Sami Belhadj, Lieke Berger, Marinus J. Blok, Susanne E. Boonen, Julika Borde, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Maria A. Caligo, Ian Campbell, Wendy K. Chung, Kathleen B. M. Claes, GEMO Study Collaborators, EMBRACE Collaborators, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J. Couch, Mary B. Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Douglas F. Easton, Hans Ehrencrona, Christoph Engel, D. Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A. Gayther, Andrea Gehrig, Paul Gesta, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Eric Hahnen, Christopher R. Hake, Ute Hamann, Thomas V. O. Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J. Hulick, Evgeny N. Imyanitov, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L. Mai, Siranoush Manoukian, Véronique Mari, John W. M. Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C. Rodriguez, Karina Rønlund, Efraim H. Rosenberg, Maria Rossing, Rita K. Schmutzler, Payal D. Shah, Saba Sharif, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Alison H. Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N. Weitzel, Marike R. Wevers, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, Logan C. Walker

Publikováno v: Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)

The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.

Externí odkaz: https://doaj.org/article/2008d12983b5437282b0bdff8c8a6bb0

Enhancing mechanical properties of lanthanide zirconates through the cold sintering assisted sintering process

Autor: Brianda Cruz-Sánchez, Juan C Díaz-Guillén, Hector M Hdz-García, Pedro Perez-Cortes, Antonio F Fuentes

Publikováno v: Materials Research Express, Vol 11, Iss 8, p 085507 (2024)

This study evaluates the impact of incorporating varying contents (10–40 wt%) and molar concentrations (0.001–1 M) of citric acid solutions, as transient liquid phases in the Cold Sintering Assisted Sintering (CSAS) process of dysprosium zirconat

Externí odkaz: https://doaj.org/article/1c98dbafbfdf415a8d8908f4a6985e09

Prognostic value of human leukocyte antigen G expression in solid tumors: a systematic review and meta-analysis

Autor: Jorge Bartolome, Consolacion Molto, Javier David Benitez-Fuentes, Gonzalo Fernandez-Hinojal, Aranzazu Manzano, Pedro Perez-Segura, Abhenil Mittal, Faris Tamimi, Eitan Amir, Alberto Ocana

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

IntroductionIdentification of modulators of the immune response with inhibitory properties that could be susceptible for therapeutic intervention is a key goal in cancer research. An example is the human leukocyte antigen G (HLA-G), a nonclassical ma

Externí odkaz: https://doaj.org/article/dd488eb0aeb047e5a91a68274cb6c4d3

Effect of Compression Tights on Skin Temperature in Women with Lipedema

Autor: Jose Luis Sanchez-Jimenez, Jose Ignacio Priego-Quesada, María José Gisbert-Ruiz, Rosa M. Cibrian-Ortiz de Anda, Pedro Perez-Soriano, Inmaculada Aparicio

Publikováno v: Applied Sciences, Vol 13, Iss 2, p 1133 (2023)

The aim was to analyze the effect of compression tights on skin temperature in women with lipedema and to assess the effect of different knitting on skin temperature. Twenty-four women with lipedema (Grade I = 25%; Grade II = 75%) were divided into t

Externí odkaz: https://doaj.org/article/d646c2885d2841c9a4812c2c58f915bc

Development of Fulminant Type 1 Diabetes Mellitus in a Patient with DRESS Syndrome

Autor: Pedro Perez, Wilson Sze, Daniel Lozeau, Dipa Avichal, Joshua Miller

Publikováno v: Case Reports in Endocrinology, Vol 2020 (2020)

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome, also known as drug-induced hypersensitivity syndrome, is a serious, sometimes lethal, immunological reaction to drug metabolites involving multiple organ systems. Some of the com

Externí odkaz: https://doaj.org/article/527f0ed2691c4a7997afd1972ceb8e7f