Zobrazeno 1 - 10
of 640
pro vyhledávání: '"Mc, Southey"'
Autor:
Dong Young Noh, Pascal Guénel, Graeme Elliott, Vesa Kataja, Shamil Gancev, Xianshu Wang, Shan Wang-Gohrke, Annegien Broeks, Florence Menegaux, Hans Wildiers, Richard van Hien, Natalia Bogdanova, Jean Wang, Puttisak Puttawibul, Betül T. Yesilyurt, Peter Devilee, Gord Glendon, Katri Pylkäs, Mark E. Sherman, Jenny Chang-Claude, Federik Marme, Michael Bremer, Katarzyna Durda, Sarah Schott, Vessela N. Kristensen, Paolo Radice, Teresa Selander, Kamila Czene, Alfons Meindl, Gianluca Severi, Angela Cox, Maartje J. Hooning, Claus R. Bartram, John L. Hopper, Ursel Eilber, Michael Jones, M. Pilar Zamora, Stephen J. Chanock, Laura Baglietto, Caroline M. Seynaeve, Daehee Kang, Thilo Dörk, Rita K. Schmutzler, Julian Peto, Børge G. Nordestgaard, Loris Bernard, Stig E. Bojesen, Barbara Burwinkel, Douglas F. Easton, Arif B. Ekici, kConFab Investigators, Mervi Grip, Robert A.E.M. Tollenaar, Argyrios Ziogas, Jonathan Beesley, Paolo Peterlongo, Volker Arndt, Xiaoqing Chen, Nichola Johnson, Jaana M. Hartikainen, Ming-Feng Hou, Diether Lambrechts, Ruediger Schulz-Wendtland, Jan Lubinski, Taru A. Muranen, Heli Nevanlinna, Esther M. John, Graham G. Giles, Chen-Yang Shen, Jolanta Lissowska, Ian W. Brock, Grethe I. Grenaker Alnæs, Gillian S. Dite, Charlotte Lanng, Hiltrud Brauch, Anthony J. Swerdlow, MC Southey, Christina Justenhoven, Manjeet K. Humphreys, Keun-Young Yoo, Elinor J. Sawyer, Emilie Cordina-Duverger, Jose Ignacio Arias Perez, Fergus J. Couch, Peter Schürmann, Stefan Nickels, Jianjun Liu, Marjanka K. Schmidt, Zachary S. Fredericksen, Yuri I. Rogov, Ute Hamann, Elza Khusnutdinova, Hermann Brenner, Sara Margolin, Natalia Antonenkova, Peter A. Fasching, Matthias W. Beckmann, Johann H. Karstens, Montserrat Garcia-Closas, Patrick Neven, Thomas Brüning, Carl Blomqvist, Heiko Müller, Jyh Cherng Yu, Katarzyna Jaworska, Yon Ko, Pei Ei Wu, Arto Mannermaa, Rebecca Hein, Darya Prokofieva, Melissa C. Southey, Andreas Schneeweiss, Irene L. Andrulis, Christa Stegmaier, Robert Winqvist, Annika Lindblom, Anna Jakubowska, Paul D.P. Pharoah, Peter Hillemanns, Alexander Miron, Roger L. Milne, Marina Bermisheva, Dieter Flesch-Janys, Christof Sohn, Nicola Miller, Georgia Chenevix-Trench, Kristiina Aittomäki, Ian Tomlinson, Thérèse Truong, Anna Marie Mulligan, Siranoush Manoukian, Robert Paridaens, Anne Lise Børresen-Dale, Suthee Rattanamongkongul, Olivia Fletcher, Simon S. Cross, Artitaya Lophatananon, Isabel dos Santos Silva, Janet E. Olson, Nick Orr, Per Hall, Alan Ashworth, Javier Benitez, Hoda Anton-Culver, Veli-Matti Kosma, Alison M. Dunning, Kenneth Muir, Sten Cornelissen, Carmel Apicella, Arja Jukkola-Vuorinen, Michael J. Kerin
Publikováno v:
Human Mutation
Human Mutation, 33(7), 1123-1132
Human Mutation, 33(7), 1123-1132. Wiley-Liss Inc.
Human Mutation; Vol 33
Human Mutation, 33(7), 1123-1132
Human Mutation, 33(7), 1123-1132. Wiley-Liss Inc.
Human Mutation; Vol 33
Journal article A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4443a536a1a79034dc542e27171bce27
https://doi.org/10.1002/humu.22089
https://doi.org/10.1002/humu.22089
Autor:
Felipe C Geyer, Arto Mannermaa, Marketa Janatova, Jorge S. Reis-Filho, Samuel H. Berman, Lai-Meng Looi, Salvatore Piscuoglio, P-S Ng, Kathleen A. Burke, Britta Weigelt, Yong Hannah Wen, Carlo Tondini, Paolo Peterlongo, MC Southey, William D. Foulkes, Marc Tischkowitz, Georgia Chenevix-Trench, T Soo Hwang, Cky Ng
Publikováno v:
Cancer Research. 77:P2-03
Background: The PALB2 gene encodes the partner and localizer of the BRCA2 protein, which participates in homologous recombination during DNA repair via an interaction with BRCA1 and BRCA2. Germline mutations in PALB2 are associated with an increased
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::518c197c3f57b2426e5f2602443ea983
https://doi.org/10.1158/1538-7445.sabcs16-p2-03-01
https://doi.org/10.1158/1538-7445.sabcs16-p2-03-01
Autor:
Fernandez-Navarro P, González-Neira A, Pita G, Díaz-Uriarte R, Tais Moreno L, Ederra M, Pedraz-Pingarrón C, Sánchez-Contador C, Ja, Vázquez-Carrete, Moreo P, Carmen Vidal, Salas-Trejo D, Stone J, Mc, Southey, Jl, Hopper, Pérez-Gómez B, Benitez J, Pollan M
Publikováno v:
Repisalud
Instituto de Salud Carlos III (ISCIII)
INTERNATIONAL JOURNAL OF CANCER
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Europe PubMed Central
Instituto de Salud Carlos III (ISCIII)
INTERNATIONAL JOURNAL OF CANCER
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Europe PubMed Central
Mammographic density (MD) is an intermediate phenotype for breast cancer. Previous studies have identified genetic variants associated with MD; however, much of the genetic contribution to MD is unexplained. We conducted a two-stage genome-wide assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3baafecc967c4fa39ae1d73ca778f237
http://hdl.handle.net/20.500.12105/10276
http://hdl.handle.net/20.500.12105/10276
Autor:
Rl, Milne, Herranz J, Michailidou K, Joe Dennis, Jp, Tyrer, Mp, Zamora, Ji, Arias-Perez, González-Neira A, Pita G, Alonso MR, Wang Q, Mk, Bolla, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Sl, Neuhausen, Ziogas A, Ca, Clarke, Jl, Hopper, Gs, Dite, Apicella C, Mc, Southey, Chenevix-Trench G, kConFab Investigators, Australian Ovarian Cancer Study Group, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Il, Andrulis, Ja, Knight, Glendon G, Am, Mulligan, Se, Bojesen, Bg, Nordestgaard, Flyger H, Nevanlinna H, Ta, Muranen, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Je, Olson, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Am, Dunning, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Ak, Dieffenbach, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning M, Hollestelle A, Collée M, Jager A, Cox A, Iw, Brock, Mw, Reed, Devilee P, Ra, Tollenaar, Seynaeve C, Ca, Haiman, Be, Henderson, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Nv, Bogdanova, Hamann U, Försti A, Rüdiger T, Hu, Ulmer, Pa, Fasching, Häberle L, Ab, Ekici, Mw, Beckmann, Fletcher O, Johnson N, Id, Silva, Peto J, Radice P, Peterlongo P, Peissel B, Mariani P, Gg, Giles, Severi G, Baglietto L, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Mannermaa A, Kataja V, Vm, Kosma, Hartikainen J, Lambrechts D, Bt, Yesilyurt, Floris G, Leunen K, Gg, Alnæs, Kristensen V, Al, Børresen-Dale, García-Closas M, Sj, Chanock, Lissowska J, Jd, Figueroa, Mk, Schmidt, Broeks A, Verhoef S, Ej, Rutgers, Brauch H, Brüning T, Yd, Ko, Genica, The Network, Fj, Couch, Ae, Toland, Tnbcc, The, Yannoukakos D, Pd, Pharoah, Hall P, Benítez J, Malats N, Df, Easton
Publikováno v:
Milne, Roger L; Herranz, Jesús; Michailidou, Kyriaki; Dennis, Joe; Tyrer, Jonathan P; Zamora, M Pilar; et al.(2014). A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.. Human molecular genetics, 23(7), 1934-1946. doi: 10.1093/hmg/ddt581. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/5ms055cv
Europe PubMed Central
Europe PubMed Central
Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8a9d66b18233466920717ddf234eefcc
http://www.escholarship.org/uc/item/5ms055cv
http://www.escholarship.org/uc/item/5ms055cv
Autor:
Fabrice Odefrey, Daniel J. Park, Andrew Lonie, Helen Tsimiklis, Fleur Hammet, Zhi Ling Teo, John L. Hopper, Graham G. Giles, MC Southey, Ingrid Winship, Tu Nguyen-Dumont, Bernard J. Pope
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A92 (2012)
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice
PALB2 is a breast cancer (BC) susceptibility gene. Its product is the binding partner of BRCA1 and BRCA2 and is involved in DNA repair. Studies of multiple-case BC families have reported that truncating mono-allelic PALB2 mutations, on average, incre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d5bafe7ca9faa651175f737c94eccb
https://doi.org/10.1186/1897-4287-10-s2-a92
https://doi.org/10.1186/1897-4287-10-s2-a92
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::229ca3ba411554d38e04f72bd81e3b15
http://www.hccpjournal.com/content/10/S2/A87
http://www.hccpjournal.com/content/10/S2/A87
Autor:
F. Le Calvez-Kelm, Sean V. Tavtigian, Tu Nguyen-Dumont, Graham G. Giles, Georgia Chenevix-Trench, Esther M. John, David E. Goldgar, Maroulio Pertesi, John L. Hopper, Irene L. Andrulis, Laura Baglietto, Olga M. Sinilnikova, Bernard J. Pope, Fleur Hammet, Susan L. Neuhausen, Daniel J. Park, Helen Tsimiklis, MC Southey, Fabienne Lesueur, Fabrice Odefrey, Andrew Lonie
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A40 (2012)
Europe PubMed Central
Hereditary Cancer in Clinical Practice
Europe PubMed Central
Hereditary Cancer in Clinical Practice
The application of massively parallel sequencing (MPS) platforms has begun to revolutionize our understanding of the immense variation in the human genome and the complexity that can underlie genetic susceptibility to disease. The utility of exome ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cff1ac5e7ca983973a81672dd1fbf17a
http://www.hccpjournal.com/content/10/S2/A40
http://www.hccpjournal.com/content/10/S2/A40
Autor:
Ab, Spurdle, Jl, Hopper, Chen X, Gs, Dite, McCredie MR, Gg, Giles, Dj, Venter, Mc, Southey, Dm, Purdie, Georgia Chenevix-Trench
Publikováno v:
Europe PubMed Central
The enzyme 5alpha-reductase type II (SRD5A2) converts testosterone to its more active form 5alpha-dihydroxytestosterone. The 3' untranslated region of the gene contains a (TA)(n) length polymorphism. The (TA)(9) allele has been reported to be associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::382ba4e40be40202f71bacc968580d16
https://pubmed.ncbi.nlm.nih.gov/11751447
https://pubmed.ncbi.nlm.nih.gov/11751447
Publikováno v:
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A38 (2012)
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A38 (2012)
Massively Parallel Sequencing (MPS) allows sequencing of entire exomes and genomes to now be done at reasonable cost, and its utility for identifying genes responsible for rare Mendelian disorders has been demonstrated. However, for a complex disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf187391662a2314435f80aa827eafa
http://europepmc.org/articles/PMC3327154
http://europepmc.org/articles/PMC3327154
Autor:
David E. Goldgar, MC Southey, Fabrice Odefrey, Daniel J. Park, R Blanc, Tu Nguyen-Dumont, Fleur Hammet, A Jammot, Zhi Ling Teo
Publikováno v:
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A91 (2012)
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A91 (2012)
Breast cancer (BC) is the most frequently diagnosed cancer in women around the world, and an estimated15-20% of BC cases present with a family history of disease. Genetic variants in known susceptibility genes explain a relatively small proportion of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64261120c5fe94b9536434e7f9e24f71
http://europepmc.org/articles/PMC3327170
http://europepmc.org/articles/PMC3327170