Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas by Deb Siddhartha, Jene Nicholas, investigators kConFab, Fox Stephen B

Get full text

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. by Logan C Walker, Bryony A Thompson, Nic Waddell, kConFab Investigators, Sean M Grimmond, Amanda B Spurdle

Get full text

High cyclin E1 protein, but not gene amplification, is prognostic for basal‐like breast cancer by Diar Aziz, Christine Lee, Venessa Chin, Kristine J Fernandez, Zoe Phan, kConFab Investigators, AOCS Study Group, Paul Waring, C Elizabeth Caldon

Get full text

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification by Logan C. Walker, Vanessa Lilian Lattimore, Anders Kvist, Petra Kleiblova, Petra Kleiblova, Petra Zemankova, Lucy de Jong, George A. R. Wiggins, Christopher Hakkaart, Simone L. Cree, Raquel Behar, Claude Houdayer, kConFab Investigators, kConFab Investigators, Michael T. Parsons, Martin A. Kennedy, Amanda B. Spurdle, Miguel de la Hoya

Get full text

BRCA2 carriers with male breast cancer show elevated tumour methylation by Siddhartha Deb, Kylie L. Gorringe, Jia-Min B. Pang, David J. Byrne, Elena A. Takano, kConFab Investigators, Alexander Dobrovic, Stephen B. Fox

Get full text

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events by Lucy C. de Jong, Simone Cree, Vanessa Lattimore, George A. R. Wiggins, Amanda B. Spurdle, kConFab Investigators, Allison Miller, Martin A. Kennedy, Logan C. Walker

Get full text

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceoge... by Vanessa L. Lattimore, John F. Pearson, John F. Pearson, Margaret J. Currie, Amanda B. Spurdle, kConFab Investigators, Bridget A. Robinson, Bridget A. Robinson, Logan C. Walker

Get full text

Prostate screening uptake in Australian <it>BRCA1 </it>and <it>BRCA2 </it>carriers by McKinley Joanne M, Weideman Prue C, Jenkins Mark A, Friedlander Michael L, Hopper John L, McLachlan Sue-Anne, Lindeman Geoffrey J, Investigators kConFab, Phillips Kelly-Anne

Get full text

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. by Day, F, Thompson, D, Helgason, H, McCarthy, M, LifeLines Cohort Study, InterAct Consortium, kConFab/AOCS Investigators, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, PRACTICAL consortium

Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance by Veronica Zelli, Valentina Silvestri, Virginia Valentini, Agostino Bucalo, Piera Rizzolo, Ines Zanna, Simonetta Bianchi, Anna Coppa, Giuseppe Giannini, Laura Cortesi, Daniele Calistri, Maria Grazia Tibiletti, Stephen B. Fox, kCon Fab, Domenico Palli, Laura Ottini

Get full text

Synergistic targeting of BRCA1 mutated breast cancers with PARP and CDK2 inhibition by Diar Aziz, Neil Portman, Kristine J. Fernandez, Christine Lee, Sarah Alexandrou, Alba Llop-Guevara, Zoe Phan, Aliza Yong, Ashleigh Wilkinson, C. Marcelo Sergio, Danielle Ferraro, Dariush Etemadmoghadam, David D. Bowtell, kConFab Investigators, Violeta Serra, Paul Waring, Elgene Lim, C. Elizabeth Caldon

Get full text

<i>VTRNA2-1</i>: Genetic Variation, Heritable Methylation and Disease Association by Pierre-Antoine Dugué, Chenglong Yu, Timothy McKay, Ee Ming Wong, Jihoon Eric Joo, Helen Tsimiklis, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, kConFab, John L. Hopper, Graham G. Giles, Roger L. Milne, Jason A. Steen, James G. Dowty, Tu Nguyen-Dumont, Melissa C. Southey

Get full text

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. by Ella R Thompson, Maria A Doyle, Georgina L Ryland, Simone M Rowley, David Y H Choong, Richard W Tothill, Heather Thorne, kConFab, Daniel R Barnes, Jason Li, Jason Ellul, Gayle K Philip, Yoland C Antill, Paul A James, Alison H Trainer, Gillian Mitchell, Ian G Campbell

Get full text

Value of the loss of heterozygosity to BRCA1 variant classification by Elizabeth Santana dos Santos, Amanda B. Spurdle, Dirce M. Carraro, Adrien Briaux, Melissa Southey, Giovana Torrezan, Ambre Petitalot, Raphael Leman, Philippe Lafitte, kConFab Investigators, Didier Meseure, Keltouma Driouch, Lucy Side, Carole Brewer, Sarah Beck, Athalie Melville, Alison Callaway, Françoise Revillion, Maria A. A. Koike Folgueira, Michael T. Parsons, Heather Thorne, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Ivan Bieche, Sandrine M. Caputo, Etienne Rouleau

Get full text

Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study by Rebecca D. Kehm, John L. Hopper, Esther M. John, Kelly-Anne Phillips, Robert J. MacInnis, Gillian S. Dite, Roger L. Milne, Yuyan Liao, Nur Zeinomar, Julia A. Knight, Melissa C. Southey, Linda Vahdat, Naomi Kornhauser, Tessa Cigler, Wendy K. Chung, Graham G. Giles, Sue-Anne McLachlan, Michael L. Friedlander, Prue C. Weideman, Gord Glendon, Stephanie Nesci, kConFab Investigators, Irene L. Andrulis, Saundra S. Buys, Mary B. Daly, Mary Beth Terry

Get full text

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers by Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, GENEPSO, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, EMBRACE, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, HEBON, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, kConFab Investigators, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. Van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton, on behalf of IBCCS, kConFab and BCFR

Get full text

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk. by Muranen, T, Greco, D, Blomqvist, C, Aittomäki, K, Khan, S, Hogervorst, F, Verhoef, S, Pharoah, P, Dunning, A, Shah, M, Luben, R, Bojesen, S, Nordestgaard, B, Schoemaker, M, Swerdlow, A, García-Closas, M, Figueroa, J, Dörk, T, Bogdanova, N, Hall, P, Li, J, Khusnutdinova, E, Bermisheva, M, Kristensen, V, Borresen-Dale, A, NBCS Investigators, Peto, J, Dos Santos Silva, I, Couch, F, Olson, J, Hillemans, P, Park-Simon, T, Brauch, H, Hamann, U, Burwinkel, B, Marme, F, Meindl, A, Schmutzler, R, Cox, A, Cross, S, Sawyer, E, Tomlinson, I, Lambrechts, D, Moisse, M, Lindblom, A, Margolin, S, Hollestelle, A, Martens, J, Fasching, P, Beckmann, M, Andrulis, I, Knight, J, kConFab/AOCS Investigators, Anton-Culver, H, Ziogas, A, Giles, G, Milne, R, Brenner, H, Arndt, V, Mannermaa, A, Kosma, V, Chang-Claude, J, Rudolph, A, Devilee, P, Seynaeve, C, Hopper, J, Southey, M, John, E, Whittemore, A, Bolla, M, Wang, Q, Michailidou, K, Dennis, J, Easton, D, Schmidt, M, Nevanlinna, H

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study by Olivier Brouckaert, Anja Rudolph, Annouschka Laenen, Renske Keeman, Manjeet K. Bolla, Qin Wang, Adelheid Soubry, Hans Wildiers, Irene L. Andrulis, Volker Arndt, Matthias W. Beckmann, Javier Benitez, Carl Blomqvist, Stig E. Bojesen, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Georgia Chenevix-Trench, Ji-Yeob Choi, Sten Cornelissen, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mikael Eriksson, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Graham G. Giles, Anna González-Neira, Pascal Guénel, Per Hall, Antoinette Hollestelle, John L. Hopper, Hidemi Ito, Michael Jones, Daehee Kang, kConFab, Julia A. Knight, Veli-Matti Kosma, Jingmei Li, Annika Lindblom, Jenna Lilyquist, Artitaya Lophatananon, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Kenneth Muir, Heli Nevanlinna, Paolo Peterlongo, Katri Pylkäs, Suleeporn Saajrang, Caroline Seynaeve, Chen-Yang Shen, Xiao-Ou Shu, Melissa C. Southey, Anthony Swerdlow, Soo-Hwang Teo, Rob A. E. M. Tollenaar, Thérèse Truong, Chiu-chen Tseng, Alexandra J. van den Broek, Carolien H. M. van Deurzen, Robert Winqvist, Anna H. Wu, Cheng Har Yip, Jyh-Cherng Yu, Wei Zheng, Roger L. Milne, Paul D. P. Pharoah, Douglas F. Easton, Marjanka K. Schmidt, Montserrat Garcia-Closas, Jenny Chang-Claude, Diether Lambrechts, Patrick Neven

Get full text

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. by Hamdi, Y, Soucy, P, Adoue, V, Michailidou, K, Canisius, S, Lemaçon, A, Droit, A, Andrulis, I, Anton-Culver, H, Arndt, V, Baynes, C, Blomqvist, C, Bogdanova, N, Bojesen, S, Bolla, M, Bonanni, B, Borresen-Dale, A, Brand, J, Brauch, H, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, NBCS Collaborators, Couch, F, Cox, A, Cross, S, Czene, K, Darabi, H, Dennis, J, Devilee, P, Dörk, T, Dos-Santos-Silva, I, Eriksson, M, Fasching, P, Figueroa, J, Flyger, H, García-Closas, M, Giles, G, Goldberg, M, González-Neira, A, Grenaker-Alnæs, G, Guénel, P, Haeberle, L, Haiman, C, Hamann, U, Hallberg, E, Hooning, M, Hopper, J, Jakubowska, A, Jones, M, Kabisch, M, Kataja, V, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Maranian, M, Margolin, S, Marme, F, Milne, R, Neuhausen, S, Nevanlinna, H, Neven, P, Olswold, C, Peto, J, Plaseska-Karanfilska, D, Pylkäs, K, Radice, P, Rudolph, A, Sawyer, E, Schmidt, M, Shu, X, Southey, M, Swerdlow, A, Tollenaar, R, Tomlinson, I, Torres, D, Truong, T, Vachon, C, Van Den Ouweland, A, Wang, Q, Winqvist, R, kConFab/Aocs Investigators, Zheng, W, Benitez, J, Chenevix-Trench, G, Dunning, A, Pharoah, P, Kristensen, V, Hall, P, Easton, D, Pastinen, T, Nord, S, Simard, J

Spectrum and Frequency of Germline <i>FANCM</i> Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases by Gisella Figlioli, Amandine Billaud, Qin Wang, Manjeet K. Bolla, Joe Dennis, Michael Lush, Anders Kvist, Muriel A. Adank, Thomas U. Ahearn, Natalia N. Antonenkova, Päivi Auvinen, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Thomas Brüning, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, NBCS Collaborators, Kamila Czene, Peter Devilee, Thilo Dörk, Mikael Eriksson, Peter A. Fasching, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Gord Glendon, Encarna B. Gómez Garcia, Anna González-Neira, Felix Grassmann, Pascal Guénel, Eric Hahnen, Ute Hamann, Peter Hillemanns, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, kConFab Investigators, Anna Jakubowska, Elza K. Khusnutdinova, Vessela N. Kristensen, Annika Lindblom, Maria A. Loizidou, Jan Lubiński, Arto Mannermaa, Tabea Maurer, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis I. Panayiotidis, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Matthias Ruebner, Emmanouil Saloustros, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Mitul Shah, Melissa C. Southey, Ian Tomlinson, Thérèse Truong, Elke M. van Veen, Camilla Wendt, Xiaohong R. Yang, Kyriaki Michailidou, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Irene L. Andrulis, D. Gareth Evans, Antoinette Hollestelle, Jenny Chang-Claude, Roger L. Milne, Paolo Peterlongo

Get full text