RAD51B in Familial Breast Cancer.

Autor: Liisa M Pelttari, Sofia Khan, Mikko Vuorela, Johanna I Kiiski, Sara Vilske, Viivi Nevanlinna, Salla Ranta, Johanna Schleutker, Robert Winqvist, Anne Kallioniemi, Thilo Dörk, Natalia V Bogdanova, Jonine Figueroa, Paul D P Pharoah, Marjanka K Schmidt, Alison M Dunning, Montserrat García-Closas, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, John L Hopper, Melissa C Southey, Efraim H Rosenberg, Peter A Fasching, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-Silva, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Harald Surowy, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Børge G Nordestgaard, Javier Benitez, Anna González-Neira, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Thomas Brüning, Annika Lindblom, Sara Margolin, Arto Mannermaa, Jaana M Hartikainen, Georgia Chenevix-Trench, kConFab/AOCS Investigators, Laurien Van Dyck, Hilde Janssen, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Paolo Peterlongo, Emily Hallberg, Janet E Olson, Graham G Giles, Roger L Milne, Christopher A Haiman, Fredrick Schumacher, Jacques Simard, Martine Dumont, Vessela Kristensen, Anne-Lise Borresen-Dale, Wei Zheng, Alicia Beeghly-Fadiel, Mervi Grip, Irene L Andrulis, Gord Glendon, Peter Devilee, Caroline Seynaeve, Maartje J Hooning, Margriet Collée, Angela Cox, Simon S Cross, Mitul Shah, Robert N Luben, Ute Hamann, Diana Torres, Anna Jakubowska, Jan Lubinski, Fergus J Couch, Drakoulis Yannoukakos, Nick Orr, Anthony Swerdlow, Hatef Darabi, Jingmei Li, Kamila Czene, Per Hall, Douglas F Easton, Johanna Mattson, Carl Blomqvist, Kristiina Aittomäki, Heli Nevanlinna

Publikováno v: PLoS ONE, Vol 11, Iss 5, p e0153788 (2016)

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of

Externí odkaz: https://doaj.org/article/6bc5488404314aa6997f9bb4296d5f1b

Assembly of the beta 4-Integrin Interactome Based on Proximal Biotinylation in the Presence and Absence of Heterodimerization

Autor: Ulla-Reetta Kämäräinen, Satu-Marja Myllymäki, Markku Varjosalo, Sini Miettinen, Mikko Vuorela, Aki Manninen, Sara Pereira Cruz, Xiaonan Liu

Integrin-mediated laminin adhesions mediate epithelial cell anchorage to basement membranes and are critical regulators of epithelial cell polarity. Integrins assemble large multiprotein complexes that link to the cytoskeleton and convey signals into

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1b9fc1ebde8f36cfadf48dfb1f4387
http://hdl.handle.net/10138/311762

RAD51B in Familial Breast Cancer

Autor: kConFab, Jonine Figueroa, Elinor J. Sawyer, Manjeet K. Bolla, Carl Blomqvist, Jaana M. Hartikainen, Sara Margolin, Mitul Shah, Matthias W. Beckmann, Fredrick Schumacher, Vessela N. Kristensen, Graham G. Giles, Isabel dos-Santos-Silva, Kamila Czene, Douglas F. Easton, Qin Wang, Javier Benitez, Janet E. Olson, Georgia Chenevix-Trench, John L. Hopper, Alicia Beeghly-Fadiel, Hoda Anton-Culver, Paolo Radice, Aocs Investigators, Nick Orr, Jacques Simard, Mervi Grip, Salla Ranta, Fergus J. Couch, Marjanka K. Schmidt, Kristiina Aittomäki, Caroline Seynaeve, Ute Hamann, Johanna Schleutker, Hilde Janssen, Robert Luben, Anna González-Neira, Peter A. Fasching, Pascal Guénel, Anja Rudolph, Arto Mannermaa, Melissa C. Southey, Ian Tomlinson, Thérèse Truong, Alison M. Dunning, Margriet Collée, Robert Winqvist, Johanna Mattson, Mikko Vuorela, Sara Vilske, Anne Lise Børresen-Dale, Johanna I. Kiiski, Paolo Peterlongo, Anna Jakubowska, Paul D.P. Pharoah, Alfons Meindl, Anthony J. Swerdlow, Roger L. Milne, Hermann Brenner, Joe Dennis, Montserrat Garcia-Closas, Thomas Brüning, Christopher A. Haiman, Martine Dumont, Wei Zheng, Per Hall, Gord Glendon, Jingmei Li, Laurien Van Dyck, Susan L. Neuhausen, Simon S. Cross, Irene L. Andrulis, Peter Devilee, Annika Lindblom, Emily Hallberg, Diana Torres, Sofia Khan, Kyriaki Michailidou, Rita K. Schmutzler, Julian Peto, Harald Surowy, Børge G. Nordestgaard, Barbara Burwinkel, Natalia Bogdanova, Drakoulis Yannoukakos, Heli Nevanlinna, Jan Lubinski, Liisa M. Pelttari, Efraim H. Rosenberg, Hiltrud Brauch, Thilo Dörk, Angela Cox, Viivi Nevanlinna, Maartje J. Hooning, Volker Arndt, Anne Kallioniemi, Stig E. Bojesen, Jenny Chang-Claude, Hatef Darabi

Publikováno v: Pelttari, L M, Khan, S, Vuorela, M, Kiiski, J I, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Dörk, T, Bogdanova, N V, Figueroa, J, Pharoah, P D P, Schmidt, M K, Dunning, A M, García-Closas, M, Bolla, M K, Dennis, J, Michailidou, K, Wang, Q, Hopper, J L, Southey, M C, Rosenberg, E H, Fasching, P A, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Sawyer, E J, Tomlinson, I, Burwinkel, B, Surowy, H, Guénel, P, Truong, T, Bojesen, S E, Nordestgaard, B G, Benitez, J, González-Neira, A, Neuhausen, S L, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, R K, Brauch, H, Brüning, T, Lindblom, A, Margolin, S, Mannermaa, A, Hartikainen, J M & kConFab/AOCS Investigators 2016, ' RAD51B in Familial Breast Cancer ', PLOS ONE, vol. 11, no. 5, e0153788 . https://doi.org/10.1371/journal.pone.0153788
PLoS One (print), 11(5):e0153788. Public Library of Science
PLoS ONE
Pelttari, L M, Khan, S, Vuorela, M, Kiiski, J I, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Dörk, T, Bogdanova, N V, Figueroa, J, Pharoah, P D P, Schmidt, M K, Dunning, A M, García-Closas, M, Bolla, M K, Dennis, J, Michailidou, K, Wang, Q, Hopper, J L, Southey, M C, Rosenberg, E H, Fasching, P A, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Sawyer, E J, Tomlinson, I, Burwinkel, B, Surowy, H, Guénel, P, Truong, T, Bojesen, S E, Nordestgaard, B G, Benitez, J, González-Neira, A, Neuhausen, S L, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, R K, Brauch, H, Brüning, T, Lindblom, A, Margolin, S & Mannermaa, A & Hartikainen, J M 2016, ' RAD51B in Familial Breast Cancer ', PLoS ONE, vol. 11, no. 5, pp. e0153788 . https://doi.org/10.1371/journal.pone.0153788
PLoS ONE, 11(5)
PLoS ONE, Vol 11, Iss 5, p e0153788 (2016)
Pelttari, L M, Khan, S, Vuorela, M, Kiiski, J I, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R & Orr, N 2016, ' AD51B in Familial Breast Cancer ', PLoS ONE, vol. 11, no. 5, e0153788 . https://doi.org/10.1371/journal.pone.0153788

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b083bd6c030e12c7449b9d6b5f2bf8e
https://curis.ku.dk/portal/da/publications/rad51b-in-familial-breast-cancer(896ad2c8-d812-44a4-9282-a7c7780d3981).html

Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network

Autor: Robert Winqvist, Meeri Otsukka, Anne Kallioniemi, Arja Jukkola-Vuorinen, Katri Pylkäs, Mikko Vuorela

Publikováno v: PLoS Genetics
PLoS Genetics, Vol 8, Iss 6, p e1002734 (2012)

Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d65d0f436f01bbd0ee2d0c90a3591a
https://trepo.tuni.fi/handle/10024/66328

Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families

Autor: Maria Haanpää, Robert Winqvist, Carly Pouchet, Thomas Rio Frio, Katri Pylkäs, Mikko Vuorela, Marc Tischkowitz, William D. Foulkes

Publikováno v: Journal of human genetics. 55(12)

MRG15 is a recently identified member of the BRCA multiprotein complex, essential for the maintenance of the genome integrity and DNA repair. The functional relationship between PALB2 and MRG15 makes MRG15 a strong candidate breast cancer susceptibil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2161f5cc22a34b6532efec4da5e2ae9
https://pubmed.ncbi.nlm.nih.gov/20844547