Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associations

Autor: Rosalind A. Eeles, Anne van Altena, Rüdiger Klapdor, Rayjean J. Hung, Graham G. Giles, Ingo B. Runnebaum, Stacey J. Winham, Alicia Beeghly-Fadiel, Michelle A.T. Hildebrandt, Ruea-Yea Huang, Amanda B. Spurdle, Ahmad Alsulimani, Robert Winqvist, Robert J. Hamilton, Clare Turnbull, James M. Flanagan, Jan Gawełko, Kenneth Muir, Peter Kraft, Joseph Vijai, Anna Jakubowska, Paul D.P. Pharoah, Stephen J. Chanock, Ailith Ewing, Mary B. Daly, Artitaya Lophatananon, Arvids Irmejs, Hiltrud Brauch, Paolo Radice, Camilla Krakstad, Liher Imaz, Lambertus A. Kiemeney, Clara Bodelon, Nadeem Siddiqui, Alvaro N.A. Monteiro, Bozena Konopka, Taymaa May, Herbert Yu, Stefanie Burghaus, Michael E. Carney, Siddhartha Kar, Beata Spiewankiewicz, Fernando Moreno Antón, Andreas du Bois, Sune F. Nielsen, Ian Tomlinson, Elza Khusnutdinova, Paolo Peterlongo, Zhihua Chen, Deborah J. Thompson, Agnieszka Podgorski, Päivi Kannisto, Andrew Berchuck, Jenny Chang-Claude, Susan J. Ramus, Florian Heitz, Nawaid Usmani, Tracy A. O'Mara, Joellen M. Schildkraut, Jennifer Permuth, Beth Y. Karlan, Ignace Vergote, Douglas F. Easton, Sara Lindstroem, Agnieszka Mieszkowska, Kirsten B. Moysich, Ana Vega-Gliemmo, Simon A. Gayther, Arif B. Ekici, Lukasz Szafron, Kunle Odunsi, Marjanka K. Schmidt, Harvey A. Risch, Linda J. Titus, Weiva Sieh, Robert A. Vierkant, Davor Lessel, Line Bjørge, Allan Jensen, Wei Zheng, Holly R. Harris, Petra Kleiblova, Peter A. Fasching, Jonathan Tyrer, Iwona K. Rzepecka, Georgia Chenevix-Trench, Tjoung-Won Park-Simon, Susanne K. Kjaer, Esther M. John, Daniele Campa, Veronica Wendy Setiawan, Martin Koebel, Cheryl L. Thompson, Håkan Olsson, Dylan M. Glubb, Peter Hillemanns, Kate Lawrenson

We report a meta-analysis of breast, prostate, ovarian, and endometrial cancer genome-wide association data (effective sample size: 237,483 cases/317,006 controls). This identified 465 independent lead variants (P−8) across 192 genomic regions. Fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e8c4ec044eb88c40a459ad55bbebfdde
https://doi.org/10.1101/2020.06.16.146803

Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene

Autor: J. Alonso-González, Virginia Fernández-Redondo, Jaime Toribio, Laura Rodríguez-Pazos, Ana Vega-Gliemmo

Publikováno v: International Journal of Dermatology. 50:968-971

Background Birt–Hogg–Dube syndrome (BHDS) is characterized by skin fibrofolliculomas (FF), multiple lung cysts, spontaneous pneumothorax, and renal cancer. Cutaneous lesions are usually distributed over the face, neck, and upper trunk. The presen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4956cedeec82423c2f21b573379faf36
https://doi.org/10.1111/j.1365-4632.2010.04854.x

Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene

Autor: J. Alonso-González, Enrique Gutiérrez-González, Ana Vega-Gliemmo, Virginia Fernández-Redondo, Jaime Toribio

Publikováno v: Clinical and Experimental Dermatology. 37:311-313

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::62ca8d48a0a6cd2f963fa60d341da160
https://doi.org/10.1111/j.1365-2230.2011.04209.x

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene

Autor: Manuel Ginarte, Ana Vega-Gliemmo, Jaime Toribio, Laura Rodríguez-Pazos

Publikováno v: International journal of dermatology. 48(11)

Background The majority of cases of Lamellar ichthyosis (LI) are caused by mutations in the transglutaminase-1 (TGM1) gene. The mutations in the β-barrel domains of the TGM1 gene are found very infrequently and several authors have suggested that th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e35f916380f5439a29c9f5a82d7aa22e
https://pubmed.ncbi.nlm.nih.gov/20064174