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11q13 is a susceptibility locus for hormone receptor positive breast cancer

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

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

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Abstract P2-03-01: Mutational landscape of breast cancers from PALB2 germline mutation carriers

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

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Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21

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

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

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Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing

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

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

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A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A87 (2012)
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

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The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women

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

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Design considerations for massively parallel sequencing studies of common familial cancers

Autor: MC Southey, Bing Jian Feng, David E. Goldgar, Sean V. Tavtigian

Publikováno v: Hereditary Cancer in Clinical Practice
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

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Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing

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)

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

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‘Next-generation’ genome wide association studies

Autor: Miroslaw K. Kapuscinski, John L. Hopper, Mark A. Jenkins, Daniel F. Schmidt, Minh Bui, Jennifer Stone, Enes Makalic, Daniel J. Park, MC Southey

Publikováno v: Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A48 (2012)

The first wave of cancer genome-wide association studies (GWAS) have revealed tens of independent loci marked by common variants of unknown or likely no functional significance that explain about 5-10% of familial risk for the particular disease. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2513e3cdf410a49e39178af731597e7
https://doi.org/10.1186/1897-4287-10-s2-a48

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