Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES)

Rezultaty

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

Publikacje

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

Autorzy: 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
Opublikowane w: Cancer Epidemiology Biomarkers & Prevention, Numer 30/3, 2021, Strona(/y) 469-473, ISSN 1055-9965
Wydawca: 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

Autorzy: 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
Opublikowane w: JNCI: Journal of the National Cancer Institute, Numer 113/3, 2020, Strona(/y) 329-337, ISSN 0027-8874
Wydawca: Oxford University Press
DOI: 10.1093/jnci/djaa056

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

Autorzy: 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
Opublikowane w: Nature Communications, Numer 11/1, 2020, Strona(/y) 3833, ISSN 2041-1723
Wydawca: 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

Autorzy: 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
Opublikowane w: Cancers, Numer 13/11, 2021, Strona(/y) 2845, ISSN 2072-6694
Wydawca: 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

Autorzy: 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
Opublikowane w: Scientific Reports, Numer 10/1, 2020, ISSN 2045-2322
Wydawca: Nature Publishing Group
DOI: 10.1038/s41598-020-65665-y

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

Autorzy: 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
Opublikowane w: Nature Reviews Clinical Oncology, Numer 17/11, 2020, Strona(/y) 716-716, ISSN 1759-4774
Wydawca: 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

Autorzy: 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
Opublikowane w: International Journal of Epidemiology, 2021, ISSN 0300-5771
Wydawca: Oxford University Press
DOI: 10.1093/ije/dyab036

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

Autorzy: 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
Opublikowane w: npj Breast Cancer, Numer 7/1, 2021, Strona(/y) 46, ISSN 2374-4677
Wydawca: Springer Nature
DOI: 10.1038/s41523-021-00254-4

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

Autorzy: Julia Dick, Viktoria Aue, Simone Wesselmann, Anne Brédart, Sylvie Dolbeault, Peter Devilee, Dominique Stoppa-Lyonnet, Rita K. Schmutzler, Kerstin Rhiem
Opublikowane w: Breast Care, Numer 16/4, 2021, Strona(/y) 389-395, ISSN 1661-3791
Wydawca: Karger AG
DOI: 10.1159/000511136

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

Autorzy: 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
Opublikowane w: BMC Medicine, Numer 18/1, 2020, Strona(/y) 327, ISSN 1741-7015
Wydawca: 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

Autorzy: 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
Opublikowane w: Human Mutation, Numer 42/2, 2021, Strona(/y) 200-212, ISSN 1059-7794
Wydawca: John Wiley & Sons Inc.
DOI: 10.1002/humu.24154

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

Autorzy: 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
Opublikowane w: Nature Communications, Numer 11/1, 2020, Strona(/y) 5116, ISSN 2041-1723
Wydawca: Nature Publishing Group
DOI: 10.1038/s41467-020-18883-x

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

Autorzy: 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,
Opublikowane w: Genetic Epidemiology, Numer 44/5, 2020, Strona(/y) 442-468, ISSN 0741-0395
Wydawca: 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?

Autorzy: 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
Opublikowane w: Cancers, Numer 13/10, 2021, Strona(/y) 2370, ISSN 2072-6694
Wydawca: 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

Autorzy: 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
Opublikowane w: Nature Communications, Numer 12/1, 2021, Strona(/y) 1078, ISSN 2041-1723
Wydawca: Nature Publishing Group
DOI: 10.1038/s41467-020-20496-3

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

Autorzy: 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,
Opublikowane w: Breast Cancer Research and Treatment, Numer 181/2, 2020, Strona(/y) 423-434, ISSN 0167-6806
Wydawca: 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

Autorzy: 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
Opublikowane w: International Journal of Cancer, Numer 148/6, 2021, Strona(/y) 1338-1350, ISSN 0020-7136
Wydawca: John Wiley & Sons Inc.
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Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

Autorzy: 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,
Opublikowane w: npj Breast Cancer, Numer 7/1, 2021, Strona(/y) 52, ISSN 2374-4677
Wydawca: Springer nature
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Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

Autorzy: 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
Opublikowane w: Familial Cancer, 2017, ISSN 1389-9600
Wydawca: 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

Autorzy: 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
Opublikowane w: Journal of Community Genetics, 2018, ISSN 1868-310X
Wydawca: Springer Verlag
DOI: 10.1007/s12687-018-0362-8

pedigreejs: a web-based graphical pedigree editor

Autorzy: Tim Carver, Alex P Cunningham, Chantal Babb de Villiers, Andrew Lee, Simon Hartley, Marc Tischkowitz, Fiona M Walter, Douglas F Easton, Antonis C Antoniou
Opublikowane w: Bioinformatics, Numer 34/6, 2017, Strona(/y) 1069-1071, ISSN 1367-4803
Wydawca: Oxford University Press
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Autorzy: 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
Opublikowane w: Nature Genetics, Numer 49/12, 2017, Strona(/y) 1767-1778, ISSN 1061-4036
Wydawca: Nature Publishing Group
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Association analysis identifies 65 new breast cancer risk loci

Autorzy: 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
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Patient-Centered Care in Breast Cancer Genetic Clinics

Autorzy: 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
Opublikowane w: International Journal of Environmental Research and Public Health, Numer 15/2, 2018, Strona(/y) 319, ISSN 1660-4601
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Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia

Autorzy: 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
Opublikowane w: Journal of Medical Genetics, Numer 55/2, 2018, Strona(/y) 97-103, ISSN 0022-2593
Wydawca: British Medical Association
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Shared heritability and functional enrichment across six solid cancers

Autorzy: 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.
Opublikowane w: Nature Communications, Numer 10/1, 2019, ISSN 2041-1723
Wydawca: 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

Autorzy: 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
Opublikowane w: npj Breast Cancer, Numer 5/1, 2019, ISSN 2374-4677
Wydawca: Springer Nature
DOI: 10.1038/s41523-019-0127-5

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

Autorzy: 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,
Opublikowane w: American Journal of Human Genetics , 104 (1) pp. 21-34. (2019), Numer 6, 2019, ISSN 0002-9297
Wydawca: University of Chicago Press

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

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Assessing breast cancer risk

Autorzy: Peter Devilee
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