Risultati finali Documents, reports (12) 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. Demonstrators, pilots, prototypes (6) 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 Websites, patent fillings, videos etc. (3) 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 Pubblicazioni Peer reviewed articles (74) CanRisk Tool—A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants Autori: 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 Pubblicato in: Cancer Epidemiology Biomarkers & Prevention, Issue 30/3, 2021, Page(s) 469-473, ISSN 1055-9965 Editore: 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 Autori: 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 Pubblicato in: JNCI: Journal of the National Cancer Institute, Issue 113/3, 2020, Page(s) 329-337, ISSN 0027-8874 Editore: Oxford University Press DOI: 10.1093/jnci/djaa056 European polygenic risk score for prediction of breast cancer shows similar performance in Asian women Autori: 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 Pubblicato in: Nature Communications, Issue 11/1, 2020, Page(s) 3833, ISSN 2041-1723 Editore: 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 Autori: 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 Pubblicato in: Cancers, Issue 13/11, 2021, Page(s) 2845, ISSN 2072-6694 Editore: 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 Autori: 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 Pubblicato in: Scientific Reports, Issue 10/1, 2020, ISSN 2045-2322 Editore: Nature Publishing Group DOI: 10.1038/s41598-020-65665-y Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement Autori: 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 Pubblicato in: Nature Reviews Clinical Oncology, Issue 17/11, 2020, Page(s) 716-716, ISSN 1759-4774 Editore: 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 Autori: 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 Pubblicato in: International Journal of Epidemiology, 2021, ISSN 0300-5771 Editore: Oxford University Press DOI: 10.1093/ije/dyab036 Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses Autori: 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 Pubblicato in: npj Breast Cancer, Issue 7/1, 2021, Page(s) 46, ISSN 2374-4677 Editore: Springer Nature DOI: 10.1038/s41523-021-00254-4 Survey on Physicians’ Knowledge and Training Needs in Genetic Counseling in Germany Autori: Julia Dick, Viktoria Aue, Simone Wesselmann, Anne Brédart, Sylvie Dolbeault, Peter Devilee, Dominique Stoppa-Lyonnet, Rita K. Schmutzler, Kerstin Rhiem Pubblicato in: Breast Care, Issue 16/4, 2021, Page(s) 389-395, ISSN 1661-3791 Editore: Karger AG DOI: 10.1159/000511136 Breast cancer risk factors and their effects on survival: a Mendelian randomisation study Autori: 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 Pubblicato in: BMC Medicine, Issue 18/1, 2020, Page(s) 327, ISSN 1741-7015 Editore: 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 Autori: 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 Pubblicato in: Human Mutation, Issue 42/2, 2021, Page(s) 200-212, ISSN 1059-7794 Editore: John Wiley & Sons Inc. DOI: 10.1002/humu.24154 Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk Autori: 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 Pubblicato in: Nature Communications, Issue 11/1, 2020, Page(s) 5116, ISSN 2041-1723 Editore: Nature Publishing Group DOI: 10.1038/s41467-020-18883-x Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status Autori: 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, Pubblicato in: Genetic Epidemiology, Issue 44/5, 2020, Page(s) 442-468, ISSN 0741-0395 Editore: 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? Autori: 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 Pubblicato in: Cancers, Issue 13/10, 2021, Page(s) 2370, ISSN 2072-6694 Editore: 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 Autori: 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 Pubblicato in: Nature Communications, Issue 12/1, 2021, Page(s) 1078, ISSN 2041-1723 Editore: Nature Publishing Group DOI: 10.1038/s41467-020-20496-3 Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts Autori: 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, Pubblicato in: Breast Cancer Research and Treatment, Issue 181/2, 2020, Page(s) 423-434, ISSN 0167-6806 Editore: 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 Autori: 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 Pubblicato in: International Journal of Cancer, Issue 148/6, 2021, Page(s) 1338-1350, ISSN 0020-7136 Editore: 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 Autori: 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, Pubblicato in: npj Breast Cancer, Issue 7/1, 2021, Page(s) 52, ISSN 2374-4677 Editore: Springer nature DOI: 10.1038/s41523-021-00255-3 Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries Autori: 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 Pubblicato in: Familial Cancer, 2017, ISSN 1389-9600 Editore: 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 Autori: 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 Pubblicato in: Journal of Community Genetics, 2018, ISSN 1868-310X Editore: Springer Verlag DOI: 10.1007/s12687-018-0362-8 pedigreejs: a web-based graphical pedigree editor Autori: Tim Carver, Alex P Cunningham, Chantal Babb de Villiers, Andrew Lee, Simon Hartley, Marc Tischkowitz, Fiona M Walter, Douglas F Easton, Antonis C Antoniou Pubblicato in: Bioinformatics, Issue 34/6, 2017, Page(s) 1069-1071, ISSN 1367-4803 Editore: Oxford University Press DOI: 10.1093/bioinformatics/btx705 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer Autori: 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 Pubblicato in: Nature Genetics, Issue 49/12, 2017, Page(s) 1767-1778, ISSN 1061-4036 Editore: Nature Publishing Group DOI: 10.1038/ng.3785 Association analysis identifies 65 new breast cancer risk loci Autori: 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 Pubblicato in: Nature, Issue 551/7678, 2017, Page(s) 92-94, ISSN 0028-0836 Editore: Nature Publishing Group DOI: 10.1038/nature24284 Patient-Centered Care in Breast Cancer Genetic Clinics Autori: 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 Pubblicato in: International Journal of Environmental Research and Public Health, Issue 15/2, 2018, Page(s) 319, ISSN 1660-4601 Editore: 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 Autori: 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 Pubblicato in: Journal of Medical Genetics, Issue 55/2, 2018, Page(s) 97-103, ISSN 0022-2593 Editore: British Medical Association DOI: 10.1136/jmedgenet-2017-104947 Shared heritability and functional enrichment across six solid cancers Autori: 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. Pubblicato in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723 Editore: 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 Autori: 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. 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Velasco Pubblicato in: Cancers, Issue 12/12, 2020, Page(s) 3771, ISSN 2072-6694 Editore: 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 Autori: 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 Pubblicato in: Breast Cancer Research, Issue 23/1, 2021, Page(s) 86, ISSN 1465-542X Editore: 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 Autori: 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, Pubblicato in: Cancer Epidemiology Biomarkers & Prevention, Issue 30/4, 2021, Page(s) 623-642, ISSN 1055-9965 Editore: 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 Autori: 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 Pubblicato in: Nature Communications, Issue 12/1, 2021, Page(s) 2986, ISSN 2041-1723 Editore: 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 Autori: 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 Pubblicato in: Nature Communications, Issue 12/1, 2021, Page(s) 4198, ISSN 2041-1723 Editore: 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 Autori: 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 Pubblicato in: The Breast, Issue 60, 2021, Page(s) 38-44, ISSN 0960-9776 Editore: Churchill Livingstone DOI: 10.1016/j.breast.2021.08.011 Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women Autori: 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 Pubblicato in: New England Journal of Medicine, Issue 384/5, 2021, Page(s) 428-439, ISSN 0028-4793 Editore: Massachusetts Medical Society DOI: 10.1056/nejmoa1913948 Other (1) Assessing breast cancer risk Autori: Peter Devilee Pubblicato in: 2018 Editore: Impact È in corso la ricerca di dati su OpenAIRE... Si è verificato un errore durante la ricerca dei dati su OpenAIRE Nessun risultato disponibile
