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Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)

Deliverables

A catalogue of (non-)spliceogenic variants

A catalogue of spliceogenic and non-spliceogenic variants (consensus site variants, nonsense variants, and indel variants) causing deleterious or non-deleterious splicing alterations in the 11 BC-HR genes.

Risk model validation

Report on model validation in KARMA and GC-HBOC. The final BOADICEA model will be evaluated in two prospective cohort studies (KARMA and GC-HBOC). Sequencing data from the BRIDGES panel, together with data on the SNP polygenic risk score (PRS), lifestyle risk factors and breast density, will be obtained from ~1,500 cases and 1,500 matched controls. The model will be evaluated for calibration and discrimination, and compared with the existing BOADICEA model.

Results from RIgORouS analysis

Report on the analysis results of the RIgORouS pipeline for 250 VUS.

Report on BOADICEA-PLUS

Report on BOADICEA-PLUS, including risk estimates for genes on BRIDGES Panel. The BOADICEA online interface will be upgraded to incorporate data on variants in BC genes, in addition to common variants, family history, lifestyle risk factors and breast density, thus providing individualised absolute risk estimates for breast cancer by subtype, and, where possible, other cancers. An interface to allow sequence variant files to be read automatically will be developed. We will provide a direct link to the Alamut database, so that users can query data on the variant classification.

A template for psychological intervention

A report presenting a template for psychological intervention, and a structured psychological evaluation and intervention concept. This will entail a questionnaire addressing the specific psychosocial difficulties and needs that counselees attending cancer genetics clinics in France, Germany and Spain may present during the course of counselling. A specific scoring procedure and interpretation was provided by the PAHC validation study. The intervention concept is to screen and monitor counselees’ needs for additional intervention, and to improve the care provided in genetics clinics according to evolving knowledge, technology and practice.

Survey results of BOADICEA-PLUS

A comprehensive description of survey results of BOADICEA-PLUS users. Online surveys among genetic counselors on the use of BOADICEA-PLUS, by analyzing the number and type of website connections and by using online questionnaires. We will use two validated instruments for our evaluation: the System Usability Scale (SUS) and the Center for Healthcare Evaluation Provider Satisfaction Questionnaire (CHCE-PSQ). These instruments have been recently used to evaluate the uptake of an online tool to guide BRCA1/2 mutation carrier women in their prophylactic surgery decisions.

Combined analysis of exome and gene panel sequencing

A report of the analysis of the data that were used to select the genes for panel 2 (specifically from the combined analysis of COMPLEXO and PERSPECTIVE).

Survey results of BOADICEA

A comprehensive description of survey results of current BOADICEA users. Online surveys among genetic counselors on the use of the present BOADICEA tool, by analyzing the number and type of BOADICEA website connections and by using online questionnaires. We will use two validated instruments for our evaluation: the System Usability Scale (SUS) and the Center for Healthcare Evaluation Provider Satisfaction Questionnaire (CHCE-PSQ). These instruments have been recently used to evaluate the uptake of an online tool to guide BRCA1/2 mutation carrier women in their prophylactic surgery decisions.

A high-throughput functional analysis system (RIgORouS)

A high-throughput functional analysis system (RIgORouS) for 11 BC-HR genes. The final analysis pipeline (RIgORouS) exploits three read-out systems (Figure 3.1d): 1. RAD51 foci analysis 2. Analysis of homologous recombination 3. Analysis of sensitivity to PARPi

Validated instruments for the identification of patients with psychological distress

Validated instruments for the identification of patients with psychological distress and structured intervention concept. We will assess the Psychosocial Aspects of Hereditary Cancer (PAHC), and the Distress Thermometer, in women undergoing genetic testing for breast cancer risk in Cancer Genetic Clinics from different EU countries. The PAHC questionnaire is dedicated to cancer genetic clinics, and has recently been validated in Dutch cancer clinics; it will be translated into English, German, French, and Spanish. Moreover, the PAHC will be modified and validated in the same cohort for the evaluation of psychosocial distress in post-test counselling concerning the uptake of preventive measures (postPAHC). A cross-cultural validity of both versions will be performed through the first patients included in the prospective observational study. At least 312 patients will be accrued in the institutes of P7 and P8, according to published recommendations.

A panel of validated minigene-based splicing assays

A panel of validated minigene-based splicing assays for 11 BC-HR genes. We will synthesize minigenes covering all exons for the selected BC-HR genes. Constructs will be transfected into human epithelial (breast cancer) cell lines. RNA will be extracted and minigene transcripts will be amplified using plasmid-specific primers and analysed by CEP and Sanger sequencing.

A catalogue of naturally occurring alternative splicing

A catalogue of naturally occurring alternative splicing events in lymphocytes and epithelial breast tissue in 11 BC-HR genes. We will use GENCODE annotations (retrieved from Ensemble) to predict alternative splicing events occurring in the 11 BC-HR genes. This information will be used to design a set of overlapping cDNA amplicons covering the full-length reference transcript of each gene. Subsequently, RNA from lymphocytes (healthy blood donors) and from normal breast tissue (either commercially available or from cosmetic surgery) will be used for analysis of RT-PCR amplicons by capillary electrophoresis (CEP) and direct sequencing by Sanger. This will yield a catalogue of alternative splicing for each of the BC-HR genes, as well as tissue-specific differences therein.

Project Website

Launch of project website with information on project related matters for the general public and a password-protected part for members of the consortium.

Publications

Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

Author(s): Anne Brédart, Jean-Luc Kop, Antonis C. Antoniou, Alex P. Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Sylvie Dolbeault, Léonore Robieux, Kerstin Rhiem, Douglas F. Easton, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutlzer
Published in: Familial Cancer, 2017, ISSN 1389-9600
DOI: 10.1007/s10689-017-0014-x

Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

Author(s): Anne Brédart, Jean-Luc Kop, Antonis C. Antoniou, Alex P. Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Marjanka K. Schmidt, Sylvie Dolbeault, Kerstin Rhiem, Douglas F. Easton, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutlzer
Published in: Journal of Community Genetics, 2018, ISSN 1868-310X
DOI: 10.1007/s12687-018-0362-8

pedigreejs: a web-based graphical pedigree editor

Author(s): Tim Carver, Alex P Cunningham, Chantal Babb de Villiers, Andrew Lee, Simon Hartley, Marc Tischkowitz, Fiona M Walter, Douglas F Easton, Antonis C Antoniou
Published in: Bioinformatics, Issue 34/6, 2017, Page(s) 1069-1071, ISSN 1367-4803
DOI: 10.1093/bioinformatics/btx705

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Author(s): Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, Shahana Ahmed, Habibul Ahsan, Kristiina Aittomäki, Fares Al-Ejeh, Jamie Allen, Chri
Published in: Nature Genetics, Issue 49/12, 2017, Page(s) 1767-1778, ISSN 1061-4036
DOI: 10.1038/ng.3785

Association analysis identifies 65 new breast cancer risk loci

Author(s): Kyriaki Michailidou, Sara Lindström, Joe Dennis, Jonathan Beesley, Shirley Hui, Siddhartha Kar, Audrey Lemaçon, Penny Soucy, Dylan Glubb, Asha Rostamianfar, Manjeet K. Bolla, Qin Wang, Jonathan Tyrer, Ed Dicks, Andrew Lee, Zhaoming Wang, Jamie Allen, Renske Keeman, Ursula Eilber, Juliet D. French, Xiao Qing Chen, Laura Fachal, Karen McCue, Amy E. McCart Reed, Maya Ghoussaini, Jason S. Carroll, X
Published in: Nature, Issue 551/7678, 2017, Page(s) 92-94, ISSN 0028-0836
DOI: 10.1038/nature24284

Patient-Centered Care in Breast Cancer Genetic Clinics

Author(s): Anne Brédart, Amélie Anota, Julia Dick, Violetta Kuboth, Olivier Lareyre, Antoine De Pauw, Alejandra Cano, Dominique Stoppa-Lyonnet, Rita Schmutzler, Sylvie Dolbeault, Jean-Luc Kop
Published in: International Journal of Environmental Research and Public Health, Issue 15/2, 2018, Page(s) 319, ISSN 1660-4601
DOI: 10.3390/ijerph15020319

Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia

Author(s): Wei Xiong Wen, Jamie Allen, Kah Nyin Lai, Shivaani Mariapun, Siti Norhidayu Hasan, Pei Sze Ng, Daphne Shin-Chi Lee, Sheau Yee Lee, Sook-Yee Yoon, Joanna Lim, Shao Yan Lau, Brennan Decker, Karen Pooley, Leila Dorling, Craig Luccarini, Caroline Baynes, Don M Conroy, Patricia Harrington, Jacques Simard, Cheng Har Yip, Nur Aishah Mohd Taib, Weang Kee Ho, Antonis C Antoniou, Alison M Dunning, Douglas F
Published in: Journal of Medical Genetics, Issue 55/2, 2018, Page(s) 97-103, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2017-104947

Shared heritability and functional enrichment across six solid cancers

Author(s): Xia Jiang, Hilary K. Finucane, Fredrick R. Schumacher, Stephanie L. Schmit, Jonathan P. Tyrer, Younghun Han, Kyriaki Michailidou, Corina Lesseur, Karoline B. Kuchenbaecker, Joe Dennis, David V. Conti, Graham Casey, Mia M. Gaudet, Jeroen R. Huyghe, Demetrius Albanes, Melinda C. Aldrich, Angeline S. Andrew, Irene L. Andrulis, Hoda Anton-Culver, Antonis C. Antoniou, Natalia N. Antonenkova, Susanne M.
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-018-08054-4

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Author(s): Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna I. Kiiski, Taru A. Muranen, Daniel R. Barnes, Joe Dennis, Kyriaki Michailidou, Manjeet K. Bolla, Goska Leslie, Cora M. Aalfs, Muriel A. Adank, Julian Adlard, Simona Agata, Karen Cadoo, Bjarni A. Agnarsson, Thomas Ahearn, Kristiina Aittomäki, Christine B. Ambrosone, Lesley Andrews, Hoda Anton
Published in: npj Breast Cancer, Issue 5/1, 2019, ISSN 2374-4677
DOI: 10.1038/s41523-019-0127-5

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Author(s): Mavaddat, N.; Michailidou, K.; Dennis, J.; Lush, M.; Fachal, L.; Lee, A.; Tyrer, J. P.; Chen, T-H; Wang, Q.; Bolla, M. K.; Yang, X.; Adank, M. A.; Ahearn, T.; Aittomäki, K.; Allen, J.; Andrulis, I. L.; Anton-Culver, H.; Antonenkova, N. N.; Arndt, V.; Aronson, K. J.; Auer, P. L.; Auvinen, P.; Barrdahl, M.; Beane Freeman, L. E.; Beckmann, M. W.; Behrens, S.; Benitez, J.; Bermisheva, M.; Bernstein,
Published in: American Journal of Human Genetics , 104 (1) pp. 21-34. (2019), Issue 6, 2019, ISSN 0002-9297

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Author(s): Wu, L.; Shi, W.; Long, J.; Guo, X.; Michailidou, K.; Beesley, J.; Bolla, M. K.; Shu, X. O.; Lu, Y.; Cai, Q.; Al-Ejeh, F.; Rozali, E.; Wang, Q.; Dennis, J.; Li, B.; Zeng, C.; Feng, H.; Gusev, A.; Barfield, R. T.; Andrulis, I. L.; Anton-Culver, H.; Arndt, V.; Aronson, K. J.; Auer, P. L.; Barrdahl, M.; Baynes, C.; Beckmann, M. W.; Benitez, J.; Bermisheva, M.; Blomqvist, C.; Bogdanova, N. V.; Bojesen,
Published in: Nature Genetics , 50 pp. 968-978. (2018), Issue 14, 2020, ISSN 1546-1718

Two truncating variants in FANCC and breast cancer risk

Author(s): Dörk, T.; Peterlongo, P.; Mannermaa, A.; Bolla, M. K.; Wang, Q.; Dennis, J.; Ahearn, T.; Andrulis, I. L.; Anton-Culver, H.; Arndt, V.; Aronson, K. J.; Augustinsson, A.; Freeman, L. E. B.; Beckmann, M. W.; Beeghly-Fadiel, A.; Behrens, S.; Bermisheva, M.; Blomqvist, C.; Bogdanova, N. V.; Bojesen, S. E.; Brauch, H.; Brenner, H.; Burwinkel, B.; Canzian, F.; Chan, T. L.; Chang-Claude, J.; Chanock, S.
Published in: Scientific Reports , 9 (1) , Article 12524. (2019), Issue 14, 2019, ISSN 2045-2322

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

Author(s): Rick A. C. M. Boonen, Amélie Rodrigue, Chantal Stoepker, Wouter W. Wiegant, Bas Vroling, Milan Sharma, Magdalena B. Rother, Nandi Celosse, Maaike P. G. Vreeswijk, Fergus Couch, Jacques Simard, Peter Devilee, Jean-Yves Masson, Haico van Attikum
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-019-13194-2

Prediction and clinical utility of a contralateral breast cancer risk model

Author(s): Daniele Giardiello, Ewout W. Steyerberg, Michael Hauptmann, Muriel A. Adank, Delal Akdeniz, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Mariël Brinkhuis, Jenny Chang-Claude, Kamila Czene, Peter Devilee, Alison M. Dunning, Douglas F. Easton, Diana M. Eccles, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Montserrat García-Closas, Lothar Haeberle, Christopher A. Haiman, Per Hall, Ute Ha
Published in: Breast Cancer Research, Issue 21/1, 2019, ISSN 1465-542X
DOI: 10.1186/s13058-019-1221-1

Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium

Author(s): Pooja Middha Kapoor, Sara Lindström, Sabine Behrens, Xiaoliang Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Alison M Dunning, Paul D P Pharoah, Marjanka K Schmidt, Peter Kraft, Montserrat García-Closas, Douglas F Easton, Roger L Milne, Jenny Chang-Claude
Published in: International Journal of Epidemiology, Issue 49/1, 2019, Page(s) 216-232, ISSN 0300-5771
DOI: 10.1093/ije/dyz193

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Author(s): Maria Escala-Garcia, Jean Abraham, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Alan Ashworth, Paul L. Auer, Päivi Auvinen, Matthias W. Beckmann, Jonathan Beesley, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, William Blot, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Anne-Lise Børresen-Dale, Hiltrud Brauch, Hermann Brenner, Sara Y. Brucker, Barbara Burwin
Published in: Nature Communications, Issue 11/1, 2020, ISSN 2041-1723
DOI: 10.1038/s41467-019-14100-6

Genetic predisposition to mosaic Y chromosome loss in blood

Author(s): Deborah J. Thompson, Giulio Genovese, Jonatan Halvardson, Jacob C. Ulirsch, Daniel J. Wright, Chikashi Terao, Olafur B. Davidsson, Felix R. Day, Patrick Sulem, Yunxuan Jiang, Marcus Danielsson, Hanna Davies, Joe Dennis, Malcolm G. Dunlop, Douglas F. Easton, Victoria A. Fisher, Florian Zink, Richard S. Houlston, Martin Ingelsson, Siddhartha Kar, Nicola D. Kerrison, Ben Kinnersley, Ragnar P. Kristja
Published in: Nature, Issue 575/7784, 2019, Page(s) 652-657, ISSN 0028-0836
DOI: 10.1038/s41586-019-1765-3

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Author(s): Laura Fachal, Hugues Aschard, Jonathan Beesley, Daniel R. Barnes, Jamie Allen, Siddhartha Kar, Karen A. Pooley, Joe Dennis, Kyriaki Michailidou, Constance Turman, Penny Soucy, Audrey Lemaçon, Michael Lush, Jonathan P. Tyrer, Maya Ghoussaini, Mahdi Moradi Marjaneh, Xia Jiang, Simona Agata, Kristiina Aittomäki, M. Rosario Alonso, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Adalge
Published in: Nature Genetics, Issue 52/1, 2020, Page(s) 56-73, ISSN 1061-4036
DOI: 10.1038/s41588-019-0537-1

Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk

Author(s): Celine M. Vachon, Christopher G. Scott, Rulla M. Tamimi, Deborah J. Thompson, Peter A. Fasching, Jennifer Stone, Melissa C. Southey, Stacey Winham, Sara Lindström, Jenna Lilyquist, Graham G. Giles, Roger L. Milne, Robert J. MacInnis, Laura Baglietto, Jingmei Li, Kamila Czene, Manjeet K. Bolla, Qin Wang, Joe Dennis, Lothar Haeberle, Mikael Eriksson, Peter Kraft, Robert Luben, Nick Wareham, Janet E
Published in: Breast Cancer Research, Issue 21/1, 2019, ISSN 1465-542X
DOI: 10.1186/s13058-019-1138-8

The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium

Author(s): Tomotaka Ugai, Roger L. Milne, Hidemi Ito, Kristan J. Aronson, Manjeet K. Bolla, Tsun Chan, Ching W. Chan, Ji-Yeob Choi, Don M. Conroy, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Valerie Gaborieau, Anna Gonzalez-Neira, Mikael Hartman, Catherine S. Healey, Motoki Iwasaki, Esther M. John, Daehee Kang, Sung-Won Kim, Ava Kwong, Artitaya Lophatananon, Kyriaki Michailidou, Nur Aishah Mohd Taib, K
Published in: Molecular Genetics & Genomic Medicine, Issue 7/6, 2019, Page(s) e707, ISSN 2324-9269
DOI: 10.1002/mgg3.707

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Author(s): Manuel A. Ferreira, Eric R. Gamazon, Fares Al-Ejeh, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J. Aronson, Banu K. Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmaña, Daniel R. Barnes, Daniel Barrowdale, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Białkowska, Carl Blomqvist, Natalia V. Bogdanova,
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-018-08053-5

Genome-wide association study of germline variants and breast cancer-specific mortality

Author(s): Maria Escala-Garcia, Qi Guo, Thilo Dörk, Sander Canisius, Renske Keeman, Joe Dennis, Jonathan Beesley, Julie Lecarpentier, Manjeet K. Bolla, Qin Wang, Jean Abraham, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Paul L. Auer, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Carl Blomqvist, Bram Boeckx, Stig E. Bojesen, Bernardo Bonanni, Anne-Lise Bø
Published in: British Journal of Cancer, Issue 120/6, 2019, Page(s) 647-657, ISSN 0007-0920
DOI: 10.1038/s41416-019-0393-x

Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228 951 Women of European Descent

Author(s): Yaohua Yang, Lang Wu, Xiao-Ou Shu, Qiuyin Cai, Xiang Shu, Bingshan Li, Xingyi Guo, Fei Ye, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Irene L Andrulis, Hermann Brenner, Georgia Chenevix-Trench, Daniele Campa, Jose E Castelao, Manuela Gago-Dominguez, Thilo Dörk, Antoinette Hollestelle, Artitaya Lophatananon, Kenneth Muir, Susan L Neuhausen, Håkan Olsson, Dale P Sandler, Jacques S
Published in: JNCI: Journal of the National Cancer Institute, Issue 112/3, 2019, Page(s) 295-304, ISSN 0027-8874
DOI: 10.1093/jnci/djz109

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Author(s): Rita D. Brandão, Klaas Mensaert, Irene López-Perolio, Demis Tserpelis, Markos Xenakis, Vanessa Lattimore, Logan C. Walker, Anders Kvist, Ana Vega, Sara Gutiérrez-Enríquez, Orland Díez, Miguel de la Hoya, Amanda B. Spurdle, Tim De Meyer, Marinus J. Blok
Published in: International Journal of Cancer, Issue 145/2, 2019, Page(s) 401-414, ISSN 0020-7136
DOI: 10.1002/ijc.32114

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Author(s): Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, kCon
Published in: Journal of Medical Genetics, Issue 56/7, 2019, Page(s) 453-460, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2018-105834

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Author(s): Logan C. Walker, Vanessa Lilian Lattimore, Anders Kvist, Petra Kleiblova, Petra Zemankova, Lucy de Jong, George A. R. Wiggins, Christopher Hakkaart, Simone L. Cree, Raquel Behar, Claude Houdayer, kConFab Investigators, Michael T. Parsons, Martin A. Kennedy, Amanda B. Spurdle, Miguel de la Hoya
Published in: Frontiers in Genetics, Issue 10, 2019, ISSN 1664-8021
DOI: 10.3389/fgene.2019.01139

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Author(s): Michael T. Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M. Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso‐Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmaña, Elena Barbieri, Claus R. Bartram, Ana Blanco, Britta Blümcke, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice B
Published in: Human Mutation, Issue 40/9, 2019, Page(s) 1557-1578, ISSN 1059-7794
DOI: 10.1002/humu.23818

Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study

Author(s): Stephanie Archer, Chantal Babb de Villiers, Fiona Scheibl, Tim Carver, Simon Hartley, Andrew Lee, Alex P. Cunningham, Douglas F. Easton, Jennifer G. McIntosh, Jon Emery, Marc Tischkowitz, Antonis C. Antoniou, Fiona M. Walter
Published in: PLOS ONE, Issue 15/3, 2020, Page(s) e0229999, ISSN 1932-6203
DOI: 10.1371/journal.pone.0229999

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

Author(s): Andrew Lee, Nasim Mavaddat, Amber N. Wilcox, Alex P. Cunningham, Tim Carver, Simon Hartley, Chantal Babb de Villiers, Angel Izquierdo, Jacques Simard, Marjanka K. Schmidt, Fiona M. Walter, Nilanjan Chatterjee, Montserrat Garcia-Closas, Marc Tischkowitz, Paul Pharoah, Douglas F. Easton, Antonis C. Antoniou
Published in: Genetics in Medicine, Issue 21/8, 2019, Page(s) 1708-1718, ISSN 1098-3600
DOI: 10.1038/s41436-018-0406-9

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

Author(s): Annelot Baert, Eva Machackova, Ilse Coene, Carol Cremin, Kristin Turner, Cheryl Portigal-Todd, Marie Jill Asrat, Jennifer Nuk, Allison Mindlin, Sean Young, Andree MacMillan, Tom Van Maerken, Martin Trbusek, Wendy McKinnon, Marie E. Wood, William D. Foulkes, Marta Santamariña, Miguel de la Hoya, Lenka Foretova, Bruce Poppe, Anne Vral, Toon Rosseel, Kim De Leeneer, Ana Vega, Kathleen B. M. Claes
Published in: Human Mutation, Issue 39/4, 2018, Page(s) 515-526, ISSN 1059-7794
DOI: 10.1002/humu.23390

Common Pitfalls and Novel Opportunities for Predicting Variant Pathogenicity

Author(s): Tom van den Bergh, Bas Vroling
Published in: Biochemistry & Physiology: Open Access, Issue 01/05, 2016, ISSN 2168-9652
DOI: 10.4172/2168-9652.1000197

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Author(s): Gisella Figlioli, Anders Kvist, Emma Tham, Jana Soukupova, Petra Kleiblova, Taru Muranen, Nadine Andrieu, Jacopo Azzollini, Judith Balmaña, Alicia Barroso, Javier Benítez, Birgitte Bertelsen, Ana Blanco, Bernardo Bonanni, Åke Borg, Joan Brunet, Daniele Calistri, Mariarosaria Calvello, Stepan Chvojka, Laura Cortesi, Esther Darder, Jesús Del Valle, Orland Diez, ENIGMA Consortium, Séverine Eon-M
Published in: Cancers, Issue 12/2, 2020, Page(s) 292, ISSN 2072-6694
DOI: 10.3390/cancers12020292

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Author(s): Xiang Jiao, Christos Aravidis, Rajeshwari Marikkannu, Johanna Rantala, Simone Picelli, Tatjana Adamovic, Tao Liu, Paula Maguire, Barbara Kremeyer, Liping Luo, Susanna von Holst, Vinaykumar Kontham, Jessada Thutkawkorapin, Sara Margolin, Quan Du, Johanna Lundin, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Christine B. Ambrosone, Irene L. Andrulis, Hoda Anton-Culver, N
Published in: Oncotarget, Issue 8/61, 2017, ISSN 1949-2553
DOI: 10.18632/oncotarget.21800

Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

Author(s): Myrto Barrdahl, Anja Rudolph, John L. Hopper, Melissa C. Southey, Annegien Broeks, Peter A. Fasching, Matthias W. Beckmann, Manuela Gago-Dominguez, J. Esteban Castelao, Pascal Guénel, Thérèse Truong, Stig E. Bojesen, Susan M. Gapstur, Mia M. Gaudet, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Ute Hamann, Arto Mannermaa, Diether Lambrechts, Lynn Jongen, Dieter Flesch-Janys, Kathrin Thoene, Fe
Published in: International Journal of Cancer, Issue 141/9, 2017, Page(s) 1830-1840, ISSN 0020-7136
DOI: 10.1002/ijc.30859

RECQL5 : Another DNA helicase potentially involved in hereditary breast cancer susceptibility

Author(s): Alejandra Tavera-Tapia, Miguel de la Hoya, Oriol Calvete, Paloma Martin-Gimeno, Victoria Fernández, José Antonio Macías, Beatriz Alonso, Luz Pombo, Carles de Diego, Rosario Alonso, Guillermo Pita, Alicia Barroso, Miguel Urioste, Trinidad Caldés, Joseph A. Newman, Javier Benítez, Ana Osorio
Published in: Human Mutation, Issue 40/5, 2019, Page(s) 566-577, ISSN 1059-7794
DOI: 10.1002/humu.23732

Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study

Author(s): Anne Brédart, Jean-Luc Kop, Julia Dick, Alejandra Cano, Antoine De Pauw, Amélie Anota, Joan Brunet, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutzler, Sylvie Dolbeault
Published in: BMJ Open, Issue 9/9, 2019, Page(s) e029926, ISSN 2044-6055
DOI: 10.1136/bmjopen-2019-029926

How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis

Author(s): Anne Brédart, Julia Dick, Alejandra Cano, Léonore Robieux, Antoine De Pauw, Rita Schmutzler, Dominique Stoppa‐Lyonnet, Sylvie Dolbeault, Jean‐Luc Kop
Published in: Psycho-Oncology, Issue 29/3, 2019, Page(s) 550-556, ISSN 1057-9249
DOI: 10.1002/pon.5302

The “Psychosocial Aspects in Hereditary Cancer” questionnaire in women attending breast cancer genetic clinics: Psychometric validation across French‐, German‐ and Spanish‐language versions

Author(s): Anne Brédart, Amélie Anota, Julia Dick, Alejandra Cano, Antoine De Pauw, Jean‐Luc Kop, Neil K. Aaronson, Eveline M. Bleiker, Joan Brunet, Peter Devilee, Dominique Stoppa‐Lyonnet, Rita Schmutzler, Sylvie Dolbeault
Published in: European Journal of Cancer Care, Issue 29/1, 2019, ISSN 0961-5423
DOI: 10.1111/ecc.13173

Making sense of big data in health research: Towards an EU action plan

Author(s): Charles Auffray, Rudi Balling, Inês Barroso, László Bencze, Mikael Benson, Jay Bergeron, Enrique Bernal-Delgado, Niklas Blomberg, Christoph Bock, Ana Conesa, Susanna Del Signore, Christophe Delogne, Peter Devilee, Alberto Di Meglio, Marinus Eijkemans, Paul Flicek, Norbert Graf, Vera Grimm, Henk-Jan Guchelaar, Yi-Ke Guo, Ivo Glynne Gut, Allan Hanbury, Shahid Hanif, Ralf-Dieter Hilgers, Ángel Ho
Published in: Genome Medicine, Issue 8/1, 2016, ISSN 1756-994X
DOI: 10.1186/s13073-016-0323-y

E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium

Author(s): Hisani N. Horne, Hannah Oh, Mark E. Sherman, Maya Palakal, Stephen M. Hewitt, Marjanka K. Schmidt, Roger L. Milne, David Hardisson, Javier Benitez, Carl Blomqvist, Manjeet K. Bolla, Hermann Brenner, Jenny Chang-Claude, Renata Cora, Fergus J. Couch, Katarina Cuk, Peter Devilee, Douglas F. Easton, Diana M. Eccles, Ursula Eilber, Jaana M. Hartikainen, Päivi Heikkilä, Bernd Holleczek, Maartje J. Hoo
Published in: Scientific Reports, Issue 8/1, 2018, ISSN 2045-2322
DOI: 10.1038/s41598-018-23733-4

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

Author(s): Jingjing Liu, Ivona Lončar, J. Margriet Collée, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Irene L. Andrulis, Monica Barile, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Carl Blomqvist, Bram Boeckx, Natalia V. Bogdanova, Stig E. Bojesen, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Jenny Chang-Claude, Shou-Tung Chen, Georgia Chenev
Published in: Scientific Reports, Issue 6/1, 2016, ISSN 2045-2322
DOI: 10.1038/srep36874

Whole exome sequencing identifies PLEC , EXO5 and DNAH7 as novel susceptibility genes in testicular cancer

Author(s): Beatriz Paumard-Hernández, Oriol Calvete, Lucia Inglada Pérez, Héctor Tejero, Fátima Al-Shahrour, Guillermo Pita, Alicia Barroso, Juan Carlos Triviño, Miguel Urioste, Claudia Valverde, Enrique González Billalabeitia, Vanesa Quiroga, Juan Francisco Rodríguez Moreno, Antonio Fernández Aramburo, Cristina López, Pablo Maroto, Javier Sastre, María José Juan Fita, Ignacio Duran, Isabel Lorenz
Published in: International Journal of Cancer, Issue 143/8, 2018, Page(s) 1954-1962, ISSN 0020-7136
DOI: 10.1002/ijc.31604

DNA damage and hormone-related cancer: a repair pathway view

Author(s): Karen A Pooley, Alison M Dunning
Published in: Human Molecular Genetics, Issue 28/R2, 2019, Page(s) R180-R186, ISSN 0964-6906
DOI: 10.1093/hmg/ddz206

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

Author(s): Anja Rudolph, Minsun Song, Mark N Brook, Roger L Milne, Nasim Mavaddat, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Amber N Wilcox, John L Hopper, Melissa C Southey, Renske Keeman, Peter A Fasching, Matthias W Beckmann, Manuela Gago-Dominguez, Jose E Castelao, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Thomas Brü
Published in: International Journal of Epidemiology, Issue 47/2, 2018, Page(s) 526-536, ISSN 0300-5771
DOI: 10.1093/ije/dyx242

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Author(s): Xiang Shu, Lang Wu, Nikhil K Khankari, Xiao-Ou Shu, Thomas J Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Paul D P Pharoah, Irene L Andrulis, David J Hunter, Jacques Simard, Douglas F Easton, Wei Zheng, Beeghly-Fadiel J Alicia, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Paul L Auer, Myrto Barrdahl, Caroline Bay
Published in: International Journal of Epidemiology, Issue 48/3, 2018, Page(s) 795-806, ISSN 0300-5771
DOI: 10.1093/ije/dyy201

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Author(s): Amanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, Melissa Brown, Leslie Burke, Miguel de la Hoya, Susan Domchek, Thilo Dörk, Helen V Firth, Alvaro N Monteiro, Arjen Mensenkamp, Michael T Parsons, Paolo Radice, Mark Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike PG Vreeswijk, Logan C Walker, Sean Tavtigian, Diana M Eccles
Published in: Journal of Medical Genetics, Issue 56/6, 2019, Page(s) 347-357, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2018-105872

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Author(s): Lang Wu, Wei Shi, Jirong Long, Xingyi Guo, Kyriaki Michailidou, Jonathan Beesley, Manjeet K. Bolla, Xiao-Ou Shu, Yingchang Lu, Qiuyin Cai, Fares Al-Ejeh, Esdy Rozali, Qin Wang, Joe Dennis, Bingshan Li, Chenjie Zeng, Helian Feng, Alexander Gusev, Richard T. Barfield, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Myrto Barrdahl, Caroline Baynes, Matthias W. Be
Published in: Nature Genetics, Issue 50/7, 2018, Page(s) 968-978, ISSN 1061-4036
DOI: 10.1038/s41588-018-0132-x

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

Author(s): A. Tavera-Tapia, L. Pérez-Cabornero, J. A. Macías, M. I. Ceballos, G. Roncador, M. de la Hoya, A. Barroso, V. Felipe-Ponce, R. Serrano-Blanch, C. Hinojo, M. D. Miramar-Gallart, M. Urioste, T. Caldés, S. Santillan-Garzón, J. Benitez, A. Osorio
Published in: Breast Cancer Research and Treatment, Issue 161/3, 2017, Page(s) 597-604, ISSN 0167-6806
DOI: 10.1007/s10549-016-4058-7

Assessing breast cancer risk

Author(s): Peter Devilee
Published in: 2018