Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Orland Diez"'
Autor:
Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides, Carolina Ramirez, Angel Criollo, Ana Estrada-Florez, Gilbert Mateus, Alejandro Velez, Jenny Carmona, Justo Olaya, Elisha Garcia, Guadalupe Polanco-Echeverry, Jacob Stultz, Carolina Alvarez, Teresa Tapia, Patricia Ashton-Prolla, Brazilian Familial Cancer Network, Ana Vega, Conxi Lazaro, Eva Tornero, Cristina Martinez-Bouzas, Mar Infante, Miguel De La Hoya, Orland Diez, Brian L. Browning, COLUMBUS Consortium, Bruce Rannala, Manuel R. Teixeira, Pilar Carvallo, Magdalena Echeverry, Luis G. Carvajal-Carmona
Publikováno v:
Breast Cancer Research, Vol 22, Iss 1, Pp 1-10 (2020)
Abstract Background The BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluate BRCA1 c.3331_3334delCAAG haplotype diversity in cases of European
Externí odkaz:
https://doaj.org/article/228752d7de16406a9de9be2986016bb9
Autor:
Lucia Guidugli, Anna Tenés, Phillip J. Whiley, Ana Blanco, MC Southey, Claude Houdayer, C Chatfield, Barbara Wappenschmidt, Marta Santamariña, Marco Montagna, Orland Diez, Gemma Montalban, Conxi Lázaro, Logan C. Walker, Fergus J. Couch, Mads Thomassen, A Van Overeem Vega, Mariella Tancredi, Mireia Menéndez, M. De La Hoya, S Imrie, Alexandra Becker, Laura Fachal, Amanda B. Spurdle, I Sokilde Pederson, Maria A. Caligo, Matthew A. Brown, A Lafferty, Marinus J. Blok, Thomas Hansen, S Gutiérrez Enríquez
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A87 (2012)
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice
Classification of intronic and predicted missense changes in the breast cancer susceptibility genes BRCA1 and BRCA2 remains a significant challenge for management of patients carrying these variants. Defective mRNA splicing is established as a pathwa