Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)

Resultado final

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.

Risk estimates Panel 1

Report on risk estimates for variants in genes on Panel 1 The principal strategy will be to estimate risks for categories of variants defined by insilico and functional characterization We will estimate hazard ratios using a maximum likelihood approach The advantage of this approach is that the same method can be used for the populationbased and clinicbased studies

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.

Predictive value of functional analyses

Report on predictive value of functional analyses in reanalysis of Panel 1 dataset Once functional analysis and detailed insilicostructural predictions have been completed WP4 we will then rederive risk estimates for those Panel 1 genes based an updated classification scheme that incorporates functional predictions BRIDGESv2 We will evaluate for each gene using regression analyses whether functional prediction is associated with risk after adjustment for the insilico prediction Since the genes evaluated in WP4 are all involved in DNA repair and are being subject to similar functional assays it may be feasible to perform global analyses across genes

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).

Position report on best practice and recommendations for genetic counselling

Position report on best practice and recommendations for genetic counseling based on the use of BOADICEAPLUS D55 and Task 55

Final Meeting

We will organise a final meeting together with BCAST which will be open to a much wider community than just the consortium members in order to provide a much broader dissemination of project results

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.

Patient decision aid for counselees

A patient decision aid PDA will be developed in a multidisciplinary team including patients We will first assess the content of a PDA for the uptake of preventive measures in women with moderate disease risk and define topic content target audience distribution strategy and objectives of the information Then we will establish content based on a literature review user expectations and other sources of information and develop the PDA based on the methods of evidencebased medicine and established quality criteria DISCERN IPDAS and others The PDA will be tested for readability understanding and presentation ie of risks and an option grid wwwoptiongridorg will be designed to help counselors and counselees talk about how best to handle disease risk with a strong focus on evidencebased preventive measures

An e-Learning tool for genetic counsellors

An elearning tool for counselors in the posttest setting including a video tutorial and a manual will be developed in three steps 1 a systematic literature review will be conducted to identify evidencebased counseling programs and routinely used information formats for posttest counseling for health care professionals 2 results from the questionnaire for BOADICEA users will be considered in order to grip users needs 3 validation of the prototype in focus group discussions with genetic counsellors and patients at risk for hereditary breast and ovarian cancer syndrome We plan on 6 to 10 focus groups based on selective sampling Each group will comprise between 6 to 10 participants Cancer family clinics from different countries will be invited to participate The number of focus groups will depend on the achievement of a theoretical saturation of 80 An interview guide will be developed to advice focus group interviews Interviews will be taped transcribed verbatim and evaluated using the software MAXQDA

Dissemination of variants

Dissemination of sequence variants in public domain through locusspecific Leiden Opensource Variant databases LOVD All variants detected in the genes analyzed in the 60000 individuals will be deposited in the public domain through genespecific LOVD databases

Upgraded Alamut Tool

Online Alamut tool upgraded with risk estimates from BRIDGES The results from risk analyses D31 D33 will be used to provide summary evaluations of the evidence for each geneclass being associated with risk and the relative risk of breast cancer and other cancers associated with each variant These results will be made available through the Alamut genome browser

Project Website

Launch of project website with information on project related matters for the general public and a passwordprotected part for members of the consortium

Publicaciones

CanRisk Tool—A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants

Autores: Tim Carver, Simon Hartley, Andrew Lee, Alex P. Cunningham, Stephanie Archer, Chantal Babb de Villiers, Jonathan Roberts, Rod Ruston, Fiona M. Walter, Marc Tischkowitz, Douglas F. Easton, Antonis C. Antoniou
Publicado en: Cancer Epidemiology Biomarkers & Prevention, Edición 30/3, 2021, Página(s) 469-473, ISSN 1055-9965
Editor: American Association for Cancer Research
DOI: 10.1158/1055-9965.epi-20-1319

Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

Autores: Pooja Middha Kapoor, Nasim Mavaddat, Parichoy Pal Choudhury, Amber N Wilcox, Sara Lindström, Sabine Behrens, Kyriaki Michailidou, Joe Dennis, Manjeet K Bolla, Qin Wang, Audrey Jung, Zomoroda Abu-Ful, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Paul L Auer, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Lesl
Publicado en: JNCI: Journal of the National Cancer Institute, Edición 113/3, 2020, Página(s) 329-337, ISSN 0027-8874
Editor: Oxford University Press
DOI: 10.1093/jnci/djaa056

European polygenic risk score for prediction of breast cancer shows similar performance in Asian women

Autores: Weang-Kee Ho, Min-Min Tan, Nasim Mavaddat, Mei-Chee Tai, Shivaani Mariapun, Jingmei Li, Peh-Joo Ho, Joe Dennis, Jonathan P. Tyrer, Manjeet K. Bolla, Kyriaki Michailidou, Qin Wang, Daehee Kang, Ji-Yeob Choi, Suniza Jamaris, Xiao-Ou Shu, Sook-Yee Yoon, Sue K. Park, Sung-Won Kim, Chen-Yang Shen, Jyh-Cherng Yu, Ern Yu Tan, Patrick Mun Yew Chan, Kenneth Muir, Artitaya Lophatananon, Anna H. Wu, Daniel O
Publicado en: Nature Communications, Edición 11/1, 2020, Página(s) 3833, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-020-17680-w

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

Autores: Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Víctor Lorca, Alicia Gómez-Sanz, Sara Carvalho, Jamie Allen, Mar Infante, Pedro Pérez-Segura, Conxi Lázaro, Douglas F. Easton, Peter Devilee, Maaike P. G. Vreeswijk, Miguel de la Hoya, Eladio A. Velasco
Publicado en: Cancers, Edición 13/11, 2021, Página(s) 2845, ISSN 2072-6694
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers13112845

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Autores: Jingjing Liu, Wendy J. C. Prager - van der Smissen, J. Margriet Collée, Manjeet K. Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Thomas U. Ahearn, Kristiina Aittomäki, Christine B. Ambrosone, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Annelie Augustinsson, Päivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behre
Publicado en: Scientific Reports, Edición 10/1, 2020, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-020-65665-y

Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement

Autores: Nora Pashayan, Antonis C. Antoniou, Urska Ivanus, Laura J. Esserman, Douglas F. Easton, David French, Gaby Sroczynski, Per Hall, Jack Cuzick, D. Gareth Evans, Jacques Simard, Montserrat Garcia-Closas, Rita Schmutzler, Odette Wegwarth, Paul Pharoah, Sowmiya Moorthie, Sandrine De Montgolfier, Camille Baron, Zdenko Herceg, Clare Turnbull, Corinne Balleyguier, Paolo Giorgi Rossi, Jelle Wesseling, Davi
Publicado en: Nature Reviews Clinical Oncology, Edición 17/11, 2020, Página(s) 716-716, ISSN 1759-4774
Editor: Nature Publishing Group
DOI: 10.1038/s41571-020-0412-0

Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

Autores: Amber N Hurson, Parichoy Pal Choudhury, Chi Gao, Anika Hüsing, Mikael Eriksson, Min Shi, Michael E Jones, D Gareth R Evans, Roger L Milne, Mia M Gaudet, Celine M Vachon, Daniel I Chasman, Douglas F Easton, Marjanka K Schmidt, Peter Kraft, Montserrat Garcia-Closas, Nilanjan Chatterjee, Christopher G Scott, Brian D Carter, Kara Martin, Elaine F Harkness, Mark N Brook, Thomas U Ahearn, Nasim Mavadda
Publicado en: International Journal of Epidemiology, 2021, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyab036

Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses

Autores: Pei Sze Ng, Jia Wern Pan, Muhammad Mamduh Ahmad Zabidi, Pathmanathan Rajadurai, Cheng Har Yip, Oscar M. Reuda, Alison M. Dunning, Antonis C. Antoniou, Douglas F. Easton, Carlos Caldas, Suet-Feung Chin, Soo Hwang Teo
Publicado en: npj Breast Cancer, Edición 7/1, 2021, Página(s) 46, ISSN 2374-4677
Editor: Springer Nature
DOI: 10.1038/s41523-021-00254-4

Survey on Physicians’ Knowledge and Training Needs in Genetic Counseling in Germany

Autores: Julia Dick, Viktoria Aue, Simone Wesselmann, Anne Brédart, Sylvie Dolbeault, Peter Devilee, Dominique Stoppa-Lyonnet, Rita K. Schmutzler, Kerstin Rhiem
Publicado en: Breast Care, Edición 16/4, 2021, Página(s) 389-395, ISSN 1661-3791
Editor: Karger AG
DOI: 10.1159/000511136

Breast cancer risk factors and their effects on survival: a Mendelian randomisation study

Autores: Maria Escala-Garcia, Anna Morra, Sander Canisius, Jenny Chang-Claude, Siddhartha Kar, Wei Zheng, Stig E. Bojesen, Doug Easton, Paul D. P. Pharoah, Marjanka K. Schmidt
Publicado en: BMC Medicine, Edición 18/1, 2020, Página(s) 327, ISSN 1741-7015
Editor: BioMed Central
DOI: 10.1186/s12916-020-01797-2

Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

Autores: Teresa Sullivan, Eswary Thirthagiri, Chan‐Eng Chong, Stacey Stauffer, Susan Reid, Eileen Southon, Tiara Hassan, Aravind Ravichandran, Eldarina Wijaya, Joanna Lim, Nur Aishah Mohd Taib, Farhana Fadzli, Cheng Har Yip, Mikael Hartman, Jingmei Li, Rob M. Dam, Susan L. North, Ranabir Das, Douglas F. Easton, Kajal Biswas, Soo‐Hwang Teo, Shyam K. Sharan
Publicado en: Human Mutation, Edición 42/2, 2021, Página(s) 200-212, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.24154

Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk

Autores: Weiva Sieh, Joseph H. Rothstein, Robert J. Klein, Stacey E. Alexeeff, Lori C. Sakoda, Eric Jorgenson, Russell B. McBride, Rebecca E. Graff, Valerie McGuire, Ninah Achacoso, Luana Acton, Rhea Y. Liang, Jafi A. Lipson, Daniel L. Rubin, Martin J. Yaffe, Douglas F. Easton, Catherine Schaefer, Neil Risch, Alice S. Whittemore, Laurel A. Habel
Publicado en: Nature Communications, Edición 11/1, 2020, Página(s) 5116, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-020-18883-x

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Autores: Helian Feng, Alexander Gusev, Bogdan Pasaniuc, Lang Wu, Jirong Long, Zomoroda Abu‐full, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton‐Culver, Antonis C. Antoniou, Adalgeir Arason, Volker Arndt, Kristan J. Aronson, Banu K. Arun, Ella Asseryanis, Paul L. Auer, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Daniel R. Barnes, Daniel Barrowdale, Matthias W. Beckmann, Sabine Behrens,
Publicado en: Genetic Epidemiology, Edición 44/5, 2020, Página(s) 442-468, ISSN 0741-0395
Editor: John Wiley & Sons Inc.
DOI: 10.1002/gepi.22288

Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?

Autores: JooYong Park, Ji-Yeob Choi, Jaesung Choi, Seokang Chung, Nan Song, Sue K. Park, Wonshik Han, Dong-Young Noh, Sei-Hyun Ahn, Jong Won Lee, Mi Kyung Kim, Sun Ha Jee, Wanqing Wen, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Mitul Shah, Don M. Conroy, Patricia A. Harrington, Rebecca Mayes, Kamila Czene, Per Hall, Lauren R. Teras, Alpa V. Patel, Fergus J. Couch, Janet E. Olson, Elinor J
Publicado en: Cancers, Edición 13/10, 2021, Página(s) 2370, ISSN 2072-6694
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers13102370

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Autores: Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O’Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Muriel A. Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Car
Publicado en: Nature Communications, Edición 12/1, 2021, Página(s) 1078, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-020-20496-3

Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

Autores: Daniele Giardiello, Michael Hauptmann, Ewout W. Steyerberg, Muriel A. Adank, Delal Akdeniz, Jannet C. Blom, 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,
Publicado en: Breast Cancer Research and Treatment, Edición 181/2, 2020, Página(s) 423-434, ISSN 0167-6806
Editor: Kluwer Academic Publishers
DOI: 10.1007/s10549-020-05611-8

Evaluating the role of alcohol consumption in breast and ovarian cancer susceptibility using population‐based cohort studies and two‐sample Mendelian randomization analyses

Autores: Jue‐Sheng Ong, Eske M. Derks, Mikael Eriksson, Jiyuan An, Liang‐Dar Hwang, Douglas F. Easton, Paul P. Pharoah, Andrew Berchuck, Linda E. Kelemen, Keitaro Matsuo, Georgia Chenevix‐Trench, Per Hall, Stig E. Bojesen, Penelope M. Webb, Stuart MacGregor
Publicado en: International Journal of Cancer, Edición 148/6, 2021, Página(s) 1338-1350, ISSN 0020-7136
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ijc.33308

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

Autores: Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutiérrez-Enríquez, Alejandro Moles-Fernández, Orland Diez, Tu Nguyen-Dumont, Melissa C. Southey, John L. Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K. Schmidt, Muriel A. Adank, Irene L. Andrulis, Eric Hahnen, Christoph Engel, Fabienne Lesueur,
Publicado en: npj Breast Cancer, Edición 7/1, 2021, Página(s) 52, ISSN 2374-4677
Editor: Springer nature
DOI: 10.1038/s41523-021-00255-3

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

Autores: 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
Publicado en: Familial Cancer, 2017, ISSN 1389-9600
Editor: Kluwer Academic Publishers
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

Autores: 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
Publicado en: Journal of Community Genetics, 2018, ISSN 1868-310X
Editor: Springer Verlag
DOI: 10.1007/s12687-018-0362-8

pedigreejs: a web-based graphical pedigree editor

Autores: Tim Carver, Alex P Cunningham, Chantal Babb de Villiers, Andrew Lee, Simon Hartley, Marc Tischkowitz, Fiona M Walter, Douglas F Easton, Antonis C Antoniou
Publicado en: Bioinformatics, Edición 34/6, 2017, Página(s) 1069-1071, ISSN 1367-4803
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btx705

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

Autores: 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
Publicado en: Nature Genetics, Edición 49/12, 2017, Página(s) 1767-1778, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/ng.3785

Association analysis identifies 65 new breast cancer risk loci

Autores: 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
Publicado en: Nature, Edición 551/7678, 2017, Página(s) 92-94, ISSN 0028-0836
Editor: Nature Publishing Group
DOI: 10.1038/nature24284

Patient-Centered Care in Breast Cancer Genetic Clinics

Autores: 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
Publicado en: International Journal of Environmental Research and Public Health, Edición 15/2, 2018, Página(s) 319, ISSN 1660-4601
Editor: MDPI
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

Autores: 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
Publicado en: Journal of Medical Genetics, Edición 55/2, 2018, Página(s) 97-103, ISSN 0022-2593
Editor: British Medical Association
DOI: 10.1136/jmedgenet-2017-104947

Shared heritability and functional enrichment across six solid cancers

Autores: 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.
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-018-08054-4

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

Autores: 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
Publicado en: npj Breast Cancer, Edición 5/1, 2019, ISSN 2374-4677
Editor: Springer Nature
DOI: 10.1038/s41523-019-0127-5

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

Autores: 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,
Publicado en: American Journal of Human Genetics , 104 (1) pp. 21-34. (2019), Edición 6, 2019, ISSN 0002-9297
Editor: University of Chicago Press

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

Autores: 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,
Publicado en: Nature Genetics , 50 pp. 968-978. (2018), Edición 14, 2020, ISSN 1546-1718
Editor: Springer Nature

Two truncating variants in FANCC and breast cancer risk

Autores: 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.
Publicado en: Scientific Reports , 9 (1) , Article 12524. (2019), Edición 14, 2019, ISSN 2045-2322
Editor: Nature Publishing Group

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

Autores: 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
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-019-13194-2

Prediction and clinical utility of a contralateral breast cancer risk model

Autores: 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
Publicado en: Breast Cancer Research, Edición 21/1, 2019, ISSN 1465-542X
Editor: Springer Nature
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

Autores: 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
Publicado en: International Journal of Epidemiology, Edición 49/1, 2019, Página(s) 216-232, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyz193

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

Autores: 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
Publicado en: Nature Communications, Edición 11/1, 2020, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-019-14100-6

Genetic predisposition to mosaic Y chromosome loss in blood

Autores: 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
Publicado en: Nature, Edición 575/7784, 2019, Página(s) 652-657, ISSN 0028-0836
Editor: Nature Publishing Group
DOI: 10.1038/s41586-019-1765-3

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

Autores: 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
Publicado en: Nature Genetics, Edición 52/1, 2020, Página(s) 56-73, ISSN 1061-4036
Editor: Nature Publishing Group
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

Autores: 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
Publicado en: Breast Cancer Research, Edición 21/1, 2019, ISSN 1465-542X
Editor: Springer Nature
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

Autores: 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
Publicado en: Molecular Genetics & Genomic Medicine, Edición 7/6, 2019, Página(s) e707, ISSN 2324-9269
Editor: John Wiley & Sons
DOI: 10.1002/mgg3.707

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

Autores: 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,
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-018-08053-5

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

Autores: 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
Publicado en: British Journal of Cancer, Edición 120/6, 2019, Página(s) 647-657, ISSN 0007-0920
Editor: Nature Publishing Group
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

Autores: 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
Publicado en: JNCI: Journal of the National Cancer Institute, Edición 112/3, 2019, Página(s) 295-304, ISSN 0027-8874
Editor: Oxford University Press
DOI: 10.1093/jnci/djz109

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

Autores: 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
Publicado en: International Journal of Cancer, Edición 145/2, 2019, Página(s) 401-414, ISSN 0020-7136
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ijc.32114

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

Autores: 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
Publicado en: Journal of Medical Genetics, Edición 56/7, 2019, Página(s) 453-460, ISSN 0022-2593
Editor: British Medical Association
DOI: 10.1136/jmedgenet-2018-105834

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

Autores: 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
Publicado en: Frontiers in Genetics, Edición 10, 2019, ISSN 1664-8021
Editor: Frontiers Media
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

Autores: 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
Publicado en: Human Mutation, Edición 40/9, 2019, Página(s) 1557-1578, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
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

Autores: 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
Publicado en: PLOS ONE, Edición 15/3, 2020, Página(s) e0229999, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1371/journal.pone.0229999

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

Autores: 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
Publicado en: Genetics in Medicine, Edición 21/8, 2019, Página(s) 1708-1718, ISSN 1098-3600
Editor: Lippincott Williams & Wilkins Ltd.
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

Autores: 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
Publicado en: Human Mutation, Edición 39/4, 2018, Página(s) 515-526, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
DOI: 10.1002/humu.23390

Common Pitfalls and Novel Opportunities for Predicting Variant Pathogenicity

Autores: Tom van den Bergh, Bas Vroling
Publicado en: Biochemistry & Physiology: Open Access, Edición 01/05, 2016, ISSN 2168-9652
Editor: OMICS Publishing Group
DOI: 10.4172/2168-9652.1000197

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

Autores: 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
Publicado en: Cancers, Edición 12/2, 2020, Página(s) 292, ISSN 2072-6694
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers12020292

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

Autores: 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
Publicado en: Oncotarget, Edición 8/61, 2017, ISSN 1949-2553
Editor: Impact Journals
DOI: 10.18632/oncotarget.21800

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

Autores: 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
Publicado en: International Journal of Cancer, Edición 141/9, 2017, Página(s) 1830-1840, ISSN 0020-7136
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ijc.30859

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

Autores: 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
Publicado en: Human Mutation, Edición 40/5, 2019, Página(s) 566-577, ISSN 1059-7794
Editor: John Wiley & Sons Inc.
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

Autores: 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
Publicado en: BMJ Open, Edición 9/9, 2019, Página(s) e029926, ISSN 2044-6055
Editor: BMJ Publishing Group
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

Autores: Anne Brédart, Julia Dick, Alejandra Cano, Léonore Robieux, Antoine De Pauw, Rita Schmutzler, Dominique Stoppa‐Lyonnet, Sylvie Dolbeault, Jean‐Luc Kop
Publicado en: Psycho-Oncology, Edición 29/3, 2019, Página(s) 550-556, ISSN 1057-9249
Editor: John Wiley & Sons Inc.
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

Autores: 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
Publicado en: European Journal of Cancer Care, Edición 29/1, 2019, ISSN 0961-5423
Editor: Blackwell Publishing Inc.
DOI: 10.1111/ecc.13173

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

Autores: 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
Publicado en: Genome Medicine, Edición 8/1, 2016, ISSN 1756-994X
Editor: BioMed Central
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

Autores: 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
Publicado en: Scientific Reports, Edición 8/1, 2018, ISSN 2045-2322
Editor: Nature Publishing Group
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

Autores: 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
Publicado en: Scientific Reports, Edición 6/1, 2016, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/srep36874

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

Autores: 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
Publicado en: International Journal of Cancer, Edición 143/8, 2018, Página(s) 1954-1962, ISSN 0020-7136
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ijc.31604

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

Autores: Karen A Pooley, Alison M Dunning
Publicado en: Human Molecular Genetics, Edición 28/R2, 2019, Página(s) R180-R186, ISSN 0964-6906
Editor: Oxford University Press
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

Autores: 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
Publicado en: International Journal of Epidemiology, Edición 47/2, 2018, Página(s) 526-536, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyx242

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

Autores: 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
Publicado en: International Journal of Epidemiology, Edición 48/3, 2018, Página(s) 795-806, ISSN 0300-5771
Editor: Oxford University Press
DOI: 10.1093/ije/dyy201

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

Autores: 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
Publicado en: Journal of Medical Genetics, Edición 56/6, 2019, Página(s) 347-357, ISSN 0022-2593
Editor: British Medical Association
DOI: 10.1136/jmedgenet-2018-105872

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

Autores: 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
Publicado en: Nature Genetics, Edición 50/7, 2018, Página(s) 968-978, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-018-0132-x

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

Autores: 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
Publicado en: Breast Cancer Research and Treatment, Edición 161/3, 2017, Página(s) 597-604, ISSN 0167-6806
Editor: Kluwer Academic Publishers
DOI: 10.1007/s10549-016-4058-7

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Autores: Haoyu Zhang, Thomas U. Ahearn, Julie Lecarpentier, Daniel Barnes, Jonathan Beesley, Guanghao Qi, Xia Jiang, Tracy A. O’Mara, Ni Zhao, Manjeet K. Bolla, Alison M. Dunning, Joe Dennis, Qin Wang, Zumuruda Abu Ful, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J. Aronson, Banu K. Arun, Paul L. Auer, Jacopo Azzollini, Daniel Barrowdale, Heiko Becher, Matthias W. Be
Publicado en: Nature Genetics, Edición 52/6, 2020, Página(s) 572-581, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-020-0609-2

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

Autores: Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Patricia Llovet, Beatriz Díez-Gómez, María José Caloca, Pedro Pérez-Segura, Eugenia Fraile-Bethencourt, Marta Colmena, Sara Carvalho, Jamie Allen, Douglas F. Easton, Peter Devilee, Maaike P. G. Vreeswijk, Miguel de la Hoya, Eladio A. Velasco
Publicado en: Cancers, Edición 12/12, 2020, Página(s) 3771, ISSN 2072-6694
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cancers12123771

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Autores: Anna Morra, Maria Escala-Garcia, Jonathan Beesley, Renske Keeman, Sander Canisius, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Paul L. Auer, Annelie Augustinsson, Laura E. Beane Freeman, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Stig E. Bojesen, Manjeet K. Bolla, Hermann Brenner, Thomas Brüning, Saundra S. Buys, Bette Caan, Daniele Campa, Federico Canzian, Jose
Publicado en: Breast Cancer Research, Edición 23/1, 2021, Página(s) 86, ISSN 1465-542X
Editor: Springer Nature
DOI: 10.1186/s13058-021-01450-7

Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium

Autores: Anna Morra, Audrey Y. Jung, Sabine Behrens, Renske Keeman, Thomas U. Ahearn, Hoda Anton-Culver, Volker Arndt, Annelie Augustinsson, Päivi K. Auvinen, Laura E. Beane Freeman, Heiko Becher, Matthias W. Beckmann, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Hermann Brenner, Ignacio Briceno, Sara Y. Brucker, Nicola J. Camp, Daniele Campa, Federico Canzian, Jose E. Castelao, Stephen J. Chanock,
Publicado en: Cancer Epidemiology Biomarkers & Prevention, Edición 30/4, 2021, Página(s) 623-642, ISSN 1055-9965
Editor: American Association for Cancer Research
DOI: 10.1158/1055-9965.epi-20-0924

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Autores: Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O’Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Muriel A. Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Car
Publicado en: Nature Communications, Edición 12/1, 2021, Página(s) 2986, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-021-23162-4

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

Autores: Babatunde Adedokun, Zhaohui Du, Guimin Gao, Thomas U. Ahearn, Kathryn L. Lunetta, Gary Zirpoli, Jonine Figueroa, Esther M. John, Leslie Bernstein, Wei Zheng, Jennifer J. Hu, Regina G. Ziegler, Sarah Nyante, Elisa V. Bandera, Sue A. Ingles, Michael F. Press, Sandra L. Deming-Halverson, Jorge L. Rodriguez-Gil, Song Yao, Temidayo O. Ogundiran, Oladosu Ojengbede, William Blot, Melissa A. Troester, Kat
Publicado en: Nature Communications, Edición 12/1, 2021, Página(s) 4198, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-021-24327-x

Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant

Autores: Anne Brédart, Antoine De Pauw, Amélie Anota, Anja Tüchler, Julia Dick, Anita Müller, Jean-Luc Kop, Kerstin Rhiem, Rita Schmutzler, Peter Devilee, Dominique Stoppa-Lyonnet, Sylvie Dolbeault
Publicado en: The Breast, Edición 60, 2021, Página(s) 38-44, ISSN 0960-9776
Editor: Churchill Livingstone
DOI: 10.1016/j.breast.2021.08.011

Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Autores: Leila Dorling, Sara Carvalho, Jamie Allen, Anna González-Neira, Craig Luccarini, Cecilia Wahlström, Karen A. Pooley, Michael T. Parsons, Cristina Fortuno, Qin Wang, Manjeet K. Bolla, Joe Dennis, Renske Keeman, M. Rosario Alonso, Nuria Álvarez, Belen Herraez, Victoria Fernandez, Rocio Núñez-Torres, Ana Osorio, Jeanette Valcich, Minerva Li, Therese Törngren, Patricia A. Harrington, Caroline Ba
Publicado en: New England Journal of Medicine, Edición 384/5, 2021, Página(s) 428-439, ISSN 0028-4793
Editor: Massachusetts Medical Society
DOI: 10.1056/nejmoa1913948

Assessing breast cancer risk

Autores: Peter Devilee
Publicado en: 2018
Editor: Impact

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