Publications by authors named "Emma R Woodward"

42Publications

New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.

Fam Cancer 2020 Sep 28. Epub 2020 Sep 28.

Division of Evolution and Genomic Sciences, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1007/s10689-020-00207-zDOI Listing
September 2020

Assessment of mismatch repair deficiency in ovarian cancer.

J Med Genet 2020 Sep 11. Epub 2020 Sep 11.

Division of Evolution and Genomic Medicine, The University of Manchester, Manchester M13 9WL, UK.

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http://dx.doi.org/10.1136/jmedgenet-2020-107270DOI Listing
September 2020

Constitutional de novo deletion CNV encompassing predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN).

J Med Genet 2020 Sep 11. Epub 2020 Sep 11.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK

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http://dx.doi.org/10.1136/jmedgenet-2020-107087DOI Listing
September 2020

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.

Genes Chromosomes Cancer 2020 Aug 23. Epub 2020 Aug 23.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1002/gcc.22893DOI Listing
August 2020

BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study.

Eur J Cancer 2020 Sep 19;136:169-175. Epub 2020 Jul 19.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; Division of Evolution and Genomic Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejca.2020.05.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441309PMC
September 2020

Global burden of childhood and adolescent cancer.

Chin Clin Oncol 2020 08 28;9(4):56. Epub 2020 Apr 28.

Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.21037/cco.2020.04.03DOI Listing
August 2020

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.

Genes Chromosomes Cancer 2020 06 5;59(6):333-347. Epub 2020 Feb 5.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1002/gcc.22833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187337PMC
June 2020

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

Eur Urol Oncol 2019 Dec 9. Epub 2019 Dec 9.

Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Health Innovation Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.euo.2019.11.002DOI Listing
December 2019

Challenging the believed proportion of ovarian cancer attributable to BRCA2 versus BRCA1 pathogenic variants.

Eur J Cancer 2020 01 21;124:88-90. Epub 2019 Nov 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PL, UK; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK; Prevention Breast Cancer Centre and Nightingale Breast Screening Centre, University Hospital of South Manchester, Manchester, M23 9LT, UK; The Christie NHS Foundation Trust, Manchester, M20 4BX, UK; Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester, M20 4BX, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejca.2019.10.018DOI Listing
January 2020

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

Authors:
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 Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 09;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163PMC
September 2019

Concern regarding classification of germline TP53 variants as likely pathogenic.

Hum Mutat 2019 06 24;40(6):828-831. Epub 2019 Apr 24.

Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/humu.23750DOI Listing
June 2019

Prevalence of germline pathogenic variants in sequential epithelial ovarian cancer cases.

J Med Genet 2019 05 25;56(5):301-307. Epub 2019 Jan 25.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2018-105792DOI Listing
May 2019

Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.

Clin Genet 2019 04 26;95(4):532-533. Epub 2018 Dec 26.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1111/cge.13488DOI Listing
April 2019

FGFR genes mutation is an independent prognostic factor and associated with lymph node metastasis in squamous non-small cell lung cancer.

Cancer Biol Ther 2018 7;19(12):1108-1116. Epub 2018 Nov 7.

b Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Thoracic Surgery II , Peking University Cancer Hospital & Institute , Beijing , China.

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https://www.tandfonline.com/doi/full/10.1080/15384047.2018.1
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http://dx.doi.org/10.1080/15384047.2018.1480294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301818PMC
September 2019

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

J Med Genet 2018 02 16;55(2):89-96. Epub 2017 Sep 16.

Manchester Centre for Genomic Medicine, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-104892
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http://dx.doi.org/10.1136/jmedgenet-2017-104892DOI Listing
February 2018

Pathology update to the Manchester Scoring System based on testing in over 4000 families.

J Med Genet 2017 10 10;54(10):674-681. Epub 2017 May 10.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-104584DOI Listing
October 2017

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Hum Mol Genet 2016 05 3;25(9):1836-45. Epub 2016 Mar 3.

Centre for Rare Diseases and Personalised Medicine, West Midlands Regional Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK

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http://dx.doi.org/10.1093/hmg/ddw057DOI Listing
May 2016

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

JAMA Oncol 2016 Mar;2(3):373-9

Department of Medical Genetics, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, England.

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http://dx.doi.org/10.1001/jamaoncol.2015.4771DOI Listing
March 2016

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

Int J Endocrinol 2015 25;2015:138573. Epub 2015 Mar 25.

Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK ; Cambridge NIHR Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK ; Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1155/2015/138573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390106PMC
April 2015

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

Cancer Discov 2015 Jul 14;5(7):723-9. Epub 2015 Apr 14.

Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom. Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/2159-8290.CD-14-1096DOI Listing
July 2015

Germline FH mutations presenting with pheochromocytoma.

J Clin Endocrinol Metab 2014 Oct 8;99(10):E2046-50. Epub 2014 Jul 8.

Department of Medical Genetics (G.R.C., E.R.M.), University of Cambridge and National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom; Medical Research Council (MRC) Cancer Unit (M.S., E.G., C.F.), University of Cambridge, Hutchison/MRC Research Centre, Cambridge CB2 0XZ, United Kingdom; Centre for Rare Diseases and Personalized Medicine (D.M.W., G.K., E.R.W.), University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; West Midlands Regional Genetics Service (G.K., E.R.W.), Birmingham Women's Hospital, Birmingham B15 2TG, United Kingdom; Division of Genetics and Molecular Medicine (M.A.S., R.C.T.), King's College London School of Medicine, Guy's Hospital, London WC2R 2LS, United Kingdom; Department of Clinical Genetics (J.N.B.), University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom; Department of Clinical Genetics (E.K.), Royal Hospital for Sick Children (Yorkhill), Glasgow G3 8SJ, United Kingdom; and Department of Medical Genetics (P.J.M.), Queen's University Belfast, Belfast Health and Social Care Trust, Belfast BT9 7AB, United Kingdom.

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http://dx.doi.org/10.1210/jc.2014-1659DOI Listing
October 2014

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev 2013 Dec 27;22(12):2269-76. Epub 2013 Nov 27.

Authors' Affiliations: Department of Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St. Mary's Hospital; Genesis Prevention Centre, University Hospital of South Manchester Southmoor Road; Centre for Health Informatics, Institute of Population Health, The University of Manchester, Manchester; and Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, and West Midlands Regional Genetics Service, Birmingham, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-13-0316-TDOI Listing
December 2013

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

Hum Mutat 2013 Dec 7;34(12):1650-61. Epub 2013 Oct 7.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1002/humu.22433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028990PMC
December 2013

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

J Clin Endocrinol Metab 2013 Jul 10;98(7):E1248-56. Epub 2013 May 10.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-1319DOI Listing
July 2013

Identification of BRCA1-deficient ovarian cancers.

Acta Obstet Gynecol Scand 2011 Jun 15;90(6):593-9. Epub 2011 Apr 15.

Clinical Genetics Pathology, Vejle Hospital, Vejle, Denmark.

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http://dx.doi.org/10.1111/j.1600-0412.2011.01121.xDOI Listing
June 2011

Population-based survey of cancer risks in chromosome 3 translocation carriers.

Genes Chromosomes Cancer 2010 Jan;49(1):52-8

CRUK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham, B15 2TT, UK.

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http://dx.doi.org/10.1002/gcc.20718DOI Listing
January 2010

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

Clin Cancer Res 2008 Sep;14(18):5925-30

Cancer Research UK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham and West Midlands Regional Genetics Service, Birmingham Women's Hospital, United Kingdom.

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http://dx.doi.org/10.1158/1078-0432.CCR-08-0608DOI Listing
September 2008

Germline SDHB mutations and familial renal cell carcinoma.

J Natl Cancer Inst 2008 Sep 26;100(17):1260-2. Epub 2008 Aug 26.

Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK.

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http://jnci.oxfordjournals.org/content/100/17/1260.full.pdf
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/djn254
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http://dx.doi.org/10.1093/jnci/djn254DOI Listing
September 2008

VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

Brain 2007 Mar 29;130(Pt 3):836-42. Epub 2007 Jan 29.

Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, UK.

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http://dx.doi.org/10.1093/brain/awl362DOI Listing
March 2007

Genotype-phenotype correlations in von Hippel-Lindau disease.

Hum Mutat 2007 Feb;28(2):143-9

Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom.

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http://dx.doi.org/10.1002/humu.20385DOI Listing
February 2007

Von Hippel-Lindau disease and endocrine tumour susceptibility.

Endocr Relat Cancer 2006 Jun;13(2):415-25

Section of Medical and Molecular Genetics and Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Institute of Biomedical Research, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1677/erc.1.00683DOI Listing
June 2006

Familial non-syndromic clear cell renal cell carcinoma.

Authors:
Emma R Woodward

Curr Mol Med 2004 Dec;4(8):843-8

Clinical Genetics Unit, Birmingham Women's Hospital, Metchley Park Road, Edgbaston, Birmingham, B15 2TG, UK.

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http://dx.doi.org/10.2174/1566524043359728DOI Listing
December 2004