Home » Consultants
thumbnail_The-London-genetics-centre-logo-RGB-copy.jpg

Professor Ros Eeles

PhD, FRCP, FRCR, FMedSci

Ros is a Professor in Oncogenetics at The Institute of Cancer Research, London. She has led an extensive number of worldwide genetic trial collaborations repeatedly moving the boundaries in the world of prostate cancer and genetics. Ros discovered a significant proportion of the genes involved in prostate cancer. She offers consultations in cancer genetics to affected and unaffected individuals assessing their risk of inherited genetic variants which may increase their cancer risk. Samples can be sent off for testing. Prof Eeles work on the Whole Genome is not remunerated by the London Genetic Centre.

Read more

Professor Rosalind (Ros) Eeles trained at Cambridge and St Thomas’ Hospital. Professor Eeles then worked in Clinical Oncology and Cancer Genetics at The Royal Marsden. She spent a year as an Assistant Professor at the University of Utah in Salt Lake City, United States.

Prof Eeles is Professor of Oncogenetics at The Institute of Cancer Research and Honorary Consultant in Clinical Oncology and Cancer Genetics at The Royal Marsden.

Professor Eeles is a clinician as well as a scientist, running a laboratory at The Institute of Cancer Research, London. She is also a radiotherapist treating prostate cancer. She has sat on the Department of Health Genetics Advisory Committee.

Professor Eeles has discovered over three quarters of the genetic variants that increase men's risk of prostate cancer. She has published 392 papers and edited major textbooks on genetic predisposition to cancer.

Her latest book in 2019 is a joint collaboration titled Cancer Screening and Prevention, it has just been nominated for an award by the BMA. Studies and Research Professor Eeles leads the following studies : The UK Genetic Prostate Cancer Study (UKGPCS), the largest prostate cancer genetic study of its kind in the UK, with nearly 200 hospitals.

The international IMPACT study, looking at whether regular screening of men who have mutations in their genes can lead to earlier diagnosis of aggressive prostate cancers. The GENPROS study , follows up men with rare germline mutations including BRCA1, BRCA2, MMR, HOXB13 and other DNA repair gene mutation carriers following their prostate cancer diagnosis and treatment.

PROFILE and BARCODE 1

The BARCODE 1 study has been developed to investigate the use of genetic profiling in prostate screening in the general population. This study will recruit 5000 men from the general practice to identify those men at the highest genetic risk of prostate cancer to offer them prostate screening.

BARCODE 2.

Men with advanced prostate cancer undergo rapid genetic testing within the study to identify whether they have a mutation in a DNA repair gene. Men identified with mutations are offered treatment with Carboplatin once they have completed all standard treatments. Platinum-based agents have been shown to be effective treatments for women with ovarian cancer who have a mutation in a DNA repair gene.

Read more

Dr Gabriella Christina Pichert–Eichenberger

MD, Consultant Cancer Genetics
Special Interest Cancer Genetics Services

Gabi worked initially in medical oncology but for many years has specialised in cancer genetics; providing cancer risk assessment, genetic counselling and advice on the management of individuals and families with an inherited predisposition to cancer, such as women with a personal and/or family history of breast cancer. Previously Consultant in Cancer Genetics at Guy`s and St Thomas NHS Foundation and Joint Lead for Cancer Genetic Services. Recently has been working in Berne.

Gabriella Christina Pichert–Eichenberger  

Curriculum vitae                               

Name:                                Gabriella Christina Pichert–Eichenberger  

Education:                        1980 MD University of Zürich, Switzerland

Licensure and certification:

  • Internal Medicine with Sub Specialty in Oncology-Hematology in Switzerland

2004-                             Fully registered medical practitioner with specialist registration (GMC number 6057266) with a licence to practice in the UK

 

Academic appointments

 

2000            VENIA LEGENDI for the field of Medical Oncology with the thesis “Minimal Residual Disease in Hematologic Malignancies”

2006-2010            Honorary Research Appointment with Kings College London, University of London

2009-2010            Faculty Member Translational Medicine of Guy’s and St Thomas NHS Foundation Trust Comprehensive Biomedical Research Centre

 

Hospital appointments:

  • Consultant in Medical Oncology and Head of the Lymphoma Group in the Laboratory of Oncology at the University Hospital Zurich
  • Consultant in Medical Oncology and Head of the Cancer Risk Clinic at the University Hospital Zurich

 

  • Locum Consultant in Cancer Genetics at the

Wessex Clinical Genetics Service in Southampton

  • Locum (- Sept. 2004) and Substantative Consultant in Cancer Genetics at Clinical Genetics at Guy’s and St Thomas NHS Foundation Trust
  • Joint Lead for Cancer Genetic Services at Guy’s and St

Thomas NHS Foundation Trust

  • 2018                     Practising privileges at Oncocare, Klinik Engeried,

                                       CH-3012 Berne

2012-2018                     Practising privileges at London Bridge Hospital, London

Current position           Continuing in Berne

                                   

90 Sloane Street Genetics Centre

 

  • Practising privileges at Onkozentrum, Klinik Hirslanden,

CH-8032 Zurich           

2018-                              Practising privileges at Brustzentrum Bern-Biel, Salem Spital

CH-3012 Berne           

Teaching experience

 

  • Medical Rounds at University Hospital Zurich
  • Multidisciplinary discussion of families with inherited cancer at University Hospital Zurich

2004-2010            Undergraduate and post graduate teaching at Guy’s and St Thomas NHS Foundation Trust

Major Committee Assignments

  • Vicechair of the Swiss Institute for Applied Cancer Research Network for Cancer Predisposition Testing and Counseling

2002-2003            Chair of the Swiss Institute for Applied Cancer Research Network for Cancer Predisposition Testing and Counseling           

2007-2010                        Member of the UK Genetics Commissioning Advisory Group

2008-2010                        Secretary of the UK Cancer Genetics Group

 

 

Bibliography

Original reports:

  1. Key messages for communicating information about BRCA1 and BRCA2 to women with breast or ovarian cancer: Consensus across health professionals and service users. Jacobs C, Pichert G, Harris J, Tucker K, Michie S. 2017 Nov;26(11):1818-1824. doi: 10.1002/pon.4379. Epub 2017 Feb 10.
  1. Genetic Testing for Rare Cancer: The Wider Issues. Jacobs C, Pichert G. Recent Results Cancer Res. 2016;205:213-26. doi: 10.1007/978-3-319-29998-
  1. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, Brunet J, Feliubadaló L, Tornero E, Benítez J, Osorio A, Ramón y Cajal T, Nevanlinna H, Aittomäki K, Arun BK, Toland AE, Karlan BY, Walsh C, Lester J, Greene MH, Mai PL, Nussbaum RL, Andrulis IL, Domchek SM, Nathanson KL, Rebbeck TR, Barkardottir RB, Jakubowska A, Lubinski J, Durda K, Jaworska-Bieniek K, Claes K, Van Maerken T, Díez O, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldés T, Dunning AM, Oliver C, Fineberg E, Cook M, Peock S, McCann E, Murray A, Jacobs C, Pichert G, Lalloo F, Chu C, Dorkins H, Paterson J, Ong KR, Teixeira MR; Teixeira, Hogervorst FB, van der Hout AH, Seynaeve C, van der Luijt RB, Ligtenberg MJ, Devilee P, Wijnen JT, Rookus MA, Meijers-Heijboer HE, Blok MJ, van den Ouweland AM, Aalfs CM, Rodriguez GC, Phillips KA, Piedmonte M, Nerenstone SR, Bae-Jump VL, O'Malley DM, Ratner ES, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Bojesen A, Pedersen IS, Sunde L, Jensen UB, Thomassen M, Kruse TA, Foretova L, Peterlongo P, Bernard L, Peissel B, Scuvera G, Manoukian S, Radice P, Ottini L, Montagna M, Agata S, Maugard C, Simard J, Soucy P, Berger A, Fink-Retter A, Singer CF, Rappaport C, Geschwantler-Kaulich D, Tea MK, Pfeiler G; BCFR, John EM, Miron A, Neuhausen SL, Terry MB, Chung WK, Daly MB, Goldgar DE, Janavicius R, Dorfling CM, van Rensburg EJ, Fostira F, Konstantopoulou I, Garber J, Godwin AK, Olah E, Narod SA, Rennert G, Paluch SS, Laitman Y, Friedman E; SWE-BRCA, Liljegren A, Rantala J, Stenmark-Askmalm M, Loman N, Imyanitov EN, Hamann U; kConFab Investigators, Spurdle AB, Healey S, Weitzel JN, Herzog J, Margileth D, Gorrini C, Esteller M, Gómez A, Sayols S, Vidal E, Heyn H; GEMO, Stoppa-Lyonnet D, Léoné M, Barjhoux L, Fassy-Colcombet M, de Pauw A, Lasset C, Ferrer SF, Castera L, Berthet P, Cornelis F, Bignon YJ, Damiola F, Mazoyer S, Sinilnikova OM, Maxwell CA, Vijai J, Robson M, Kauff N, Corines MJ, Villano D, Cunningham J, Lee A, Lindor N, Lázaro C, Easton DF, Offit K, Chenevix-Trench G, Couch FJ, Antoniou AC, Pujana MA.PLoS One. 2015 Apr 1;10(4):e0120020. doi: 10.1371/journal.pone.0120020. eCollection 2015.
  1. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Pour NA, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium, Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Collaborators 396. Nature. 2013 Jan 17;493(7432):406-10.
  1. Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Mathers JC, Movahedi M, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans G, Maher ER, Bertario L, Bisgaard ML, Dunlop M, Ho JW, Hodgson S, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen H, Gerdes AM, Barker G, Crawford G, Elliott F, Pylvanainen K, Wijnen J, Fodde R, Lynch H, Bishop DT, Burn J; CAPP2 Investigators.

 

  1. Lancet Oncol. 2012 Dec;13(12):1242-9. doi: 10.1016/S1470-2045(12)70475-8. Epub 2012 Nov 7.Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). Pijpe A, Andrieu N, Easton DF, Kesminiene A, Cardis E, Noguès C, Gauthier-Villars M, Lasset C, Fricker JP, Peock S, Frost D, Evans DG, Eeles RA, Paterson J, Manders P, van Asperen CJ, Ausems MG, Meijers-Heijboer H, Thierry-Chef I, Hauptmann M, Goldgar D, Rookus MA, van Leeuwen FE; GENEPSO; EMBRACE; HEBON.
  1. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, Wang X, Cox A, Brock I, Elliott G, Reed MW, Burwinkel B, Meindl A, Brauch H, Hamann U, Ko YD; GENICA Network, Broeks A, Schmidt MK, Van 't Veer LJ, Braaf LM, Johnson N, Fletcher O, Gibson L, Peto J, Turnbull C, Seal S, Renwick A, Rahman N, Wu PE, Yu JC, Hsiung CN, Shen CY, Southey MC, Hopper JL, Hammet F, Van Dorpe T, Dieudonne AS, Hatse S, Lambrechts D, Andrulis IL, Bogdanova N, Antonenkova N, Rogov JI, Prokofieva D, Bermisheva M, Khusnutdinova E, van Asperen CJ, Tollenaar RA, Hooning MJ, Devilee P, Margolin S, Lindblom A, Milne RL, Arias JI, Zamora MP, Benítez J, Severi G, Baglietto L, Giles GG; kConFab; AOCS Study Group, Spurdle AB, Beesley J, Chen X, Holland H, Healey S, Wang-Gohrke S, Chang-Claude J, Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Agnarsson BA, Caligo MA, Godwin AK, Nevanlinna H, Heikkinen T, Fredericksen Z, Lindor N, Nathanson KL, Domchek SM; SWE-BRCA, Loman N, Karlsson P, Stenmark Askmalm M, Melin B, von Wachenfeldt A; HEBON, Hogervorst FB, Verheus M, Rookus MA, Seynaeve C, Oldenburg RA, Ligtenberg MJ, Ausems MG, Aalfs CM, Gille HJ, Wijnen JT, Gómez García EB; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Pichert G, Davidson R, Chu C, Eccles D, Ong KR, Cook J, Douglas F, Hodgson S, Evans DG, Eeles R, Gold B, Pharoah PD, Offit K, Chenevix-Trench G, Easton DF; BCAC/CIMBA.
  1. Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.Byrne M, Mallipeddi R, Pichert G, Whittaker S.
  1. Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers. Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, Van't Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR.
  1. Novel one-stop multidisciplinary follow-up clinic for BRCA1/2 carriers: patient satisfaction and decision making. Firth C, Jacobs C, Evison M, Pichert G, Izatt L, Hunter MS. Psychooncology. 2011 Dec;20(12):1301-8. doi: 10.1002/pon.1846. Epub 2010 Oct 3.
  1. J Clin Oncol. 2012 Apr 20;30(12):1321-8. Epub 2012 Mar 19.Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: What are the issues? Pichert G, Mohammed SN, Ahn JW, Ogilvie CM, Izatt L. J Med Genet, 2011 Mar 23. Impact Factor 5.75
  1. Multiple Self-Healing Squamous Epithelioma is caused by a disease-specific spectrum of mutations in the TGFBR1 gene. David R Goudie, Mariella D’Alessandro, Barry Merriman, Hane Lee, Ildikó Szeverényi, Stuart Avery, Brian D O’Connor, Stanley F Nelson, Stephanie E Coats, Arlene Stewart, Lesley Christie, Gabriella Pichert, Jean Friedel, Ian Hayes, Nigel Burrows, Sean Whittaker, Anne-Marie Gerdes, Sigurd Broesby-Olsen, Malcolm A Ferguson-Smith, Chandra Verma, Declan P Lunny, Bruno Reversade, E Birgitte Lane. Nature Genetics, 2011 ;43(4):365-9. Impact factor: 34.28
  1. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Stenmark Askmalm M, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Gronwald J, Górski B, Cybulski C, Dębniak T, Osorio A, Durán M, Tejada MI, Benítez J, Hamann U, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems MG, van Os TA, Asperen CJ, Blok MJ, Meijers-Heijboer HE; HEBON; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C, Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H, Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L, Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F, Collonge-Rame MA, Venat-Bouvet L, Fert-Ferrer S; GEMO Study Collaborators, Miron A, Buys SS, Hopper JL, Daly MB, John EM, Terry MB, Goldgar D; BCFR, Hansen TO, Jønson L, Ejlertsen B, Agnarsson BA, Offit K, Kirchhoff T, Vijai J, Dutra-Clarke AV, Przybylo JA, Montagna M, Casella C, Imyanitov EN, Janavicius R, Blanco I, Lázaro C, Moysich KB, Karlan BY, Gross J, Beattie MS, Schmutzler R, Wappenschmidt B, Meindl A, Ruehl I, Fiebig B, Sutter C, Arnold N, Deissler H, Varon-Mateeva R, Kast K, Niederacher D, Gadzicki D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Simard J, Soucy P; kConFab Investigators, Spurdle AB, Holland H, Chenevix-Trench G, Easton DF, Antoniou AC; Consortium of Investigators of Modifiers of BRCA1/2. J Natl Cancer Inst. 2011 Jan 19;103(2):105-16. Impact factor: 14.06
  1. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Antonis C Antoniou, JonathanBeesley, LesleyMcGuffog, OlgaM. Sinilnikova, SueHealey,Susan L. Neuhausen,Yuan Chun Ding, Timothy R. Rebbeck, Jeffrey N. Weitzel, Henry T. Lynch, Claudine Isaacs, Patricia A. Ganz, Gail Tomlinson,Olufunmilayo I. Olopade, Fergus J. Couch,Xianshu Wang, Noralane M. Lindor,Vernon S. Pankratz, Paolo Radice,15 Siranoush Manoukian,Bernard Peissel, Daniela Zaffaroni, Monica Barile, Alessandra Viel, Anna Allavena, Valentina Dall’Olio, Paolo Peterlongo, Csilla I. Szabo, Michal Zikan, Kathleen Claes, Bruce Poppe, Lenka Foretova, Phuong L. Mai, Mark H. Greene, Gad Rennert, Flavio Lejbkowicz, Gord Glendon, Hilmi Ozcelik, Irene L. Andrulis,27-30 for the Ontario Cancer Genetics Network, Mads Thomassen, Anne-Marie Gerdes, Lone Sunde, Dorthe Cruger, Uffe Birk Jensen, Maria Caligo, Eitan Friedman, Bella Kaufman, Yael Laitman, Roni Milgrom, Maya Dubrovsky, Shimrit Cohen, Ake Borg, Helena Jernström,Annika Lindblom,Johanna Rantala, Marie Stenmark-Askmalm, Beatrice Melin, for SWE-BRCA, Kate Nathanson, SusanDomchek, Ania Jakubowska, Jan Lubinski, Tomasz Huzarski, Ana Osorio, Adriana Lasa, Mercedes Durán, Maria-Isabel Tejada, Javier Godino, Javier Benitez, Ute Hamann, Mieke Kriege, Nicoline Hoogerbrugge, Rob B van der Luijt, Christi J van Asperen, Peter Devilee, E.J. Meijers-Heijboer, Marinus J Blok, Cora M. Aalfs, Frans Hogervorst, Matti Rookus, for HEBON, Margaret Cook, Clare Oliver, Debra Frost, Don Conroy, D. Gareth Evans, Fiona Lalloo, Gabriella Pichert, Rosemarie Davidson, Trevor Cole, Cook, Joan Paterson, Shirley Hodgson, Patrick J. Morrison, Mary E. Porteous, Lisa Walker, John Kennedy, Huw Dorkins, Susan Peock, for EMBRACE, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Antoine de Pauw, Sylvie Mazoyer, Valérie Bonadona,Christine Lasset, , Hélène Dreyfus, Dominique Leroux, Agnès Hardouin, Pascaline Berthet, Laurence Faivre, Catherine Loustalot, Tetsuro Noguchi, Hagay Sobol, Etienne Rouleau, Catherine Nogues, Marc Frénay, Laurence Vénat-Bouvet, for GEMO, John L. Hopper, Mary B.Daly, Mary B. Terry, Esther M. John, Saundra S. Buys, Yosuf Yassin, Alex Miron, David Goldgar for the Breast Cancer Family Registry, Christian F. Singer, Anne Catharina Dressler, Daphne Gschwantler-Kaulich, Georg Pfeiler, Thomas V. O. Hansen, Lars Jønson, Bjarni A. Agnarsson, Tomas Kirchhoff, Kenneth Offit, Vincent Devlin, Ana Dutra-Clarke, Marion Piedmonte, Gustavo C. Rodriguez, Katie Wakeley, John F. Boggess,Jack Basil, Peter E. Schwartz, Stephanie V. Blank, Amanda Ewart Toland, Marco Montagna, Cinzia Casella, Evgeny Imyanitov, Laima Tihomirova, Ignacio Blanco, Conxi Lazaro, Susan J. Ramus, Lara Sucheston, Beth Y.Karlan, Jenny Gross, Rita Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Magdalena Lochmann, Norbert Arnold, Simone Heidemann, Raymonda Varon-Mateeva, Dieter Niederacher, Christian Sutter, Helmut Deissler,127 Dorothea Gadzicki,128 Sabine Preisler- Adams,129 Karin Kast,130 Ines Schönbuchner,131 Trinidad Caldes,132 Miguel de la Hoya,132 Kristiina Aittomäki, Heli Nevanlinna, Jacques Simard, Amanda B. Spurdle, Helene Holland, Xiaoqing Chen, 2,135 for kConFab, Radka Platte, Georgia Chenevix-Trench and Douglas F. Easton on behalf of CIMBA Affiliations. Cancer Res. 2010 Dec 1;70(23):9742-54. Epub 2010 Nov 30. Impact factor 7.5
  1. Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, Cook M, Oliver C, Frost D, Mayes R, Evans DG, Eeles R, Paterson J, Brewer C; Epidemiological Study of Familial Breast Cancer (EMBRACE), McGuffog L, Antoniou AC, Stoppa-Lyonnet D, Sinilnikova OM, Barjhoux L, Frenay M, Michel C, Leroux D, Dreyfus H, Toulas C, Gladieff L, Uhrhammer N, Bignon YJ, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Preisler-Adams S, Kast K, Deissler H, Sutter C, Gadzicki D, Chenevix-Trench G, Spurdle AB, Chen X, Beesley J; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Olsson H, Kristoffersson U, Ehrencrona H, Liljegren A; Swedish Breast Cancer Study, Sweden (SWE-BRCA), van der Luijt RB, van Os TA, van Leeuwen FE; Hereditary Breast and Ovarian cancer group Netherlands (HEBON), Domchek SM, Rebbeck TR, Nathanson KL, Osorio A, Ramón y Cajal T, Konstantopoulou I, Benítez J, Friedman E, Kaufman B, Laitman Y, Mai PL, Greene MH, Nevanlinna H, Aittomäki K, Szabo CI, Caldes T, Couch FJ, Andrulis IL, Godwin AK, Hamann U, Schmutzler RK; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
  1. Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality. Susan M. Domchek, MD; Tara M. Friebel, MPH; Christian F. Singer, MD, MPH; D. Gareth Evans, MD; Henry T. Lynch, MD; Claudine Isaacs, MD; Judy E. Garber, MD, MPH; Susan L. Neuhausen, PhD; Ellen Matloff, MS; Rosalind Eeles, PhD; Gabriella Pichert, MD; Laura Van t’veer, PhD; Nadine Tung, MD; Jeffrey N. Weitzel, MD; Fergus J. Couch, PhD; Wendy S. Rubinstein, MD, PhD; Patricia A. Ganz, MD; Mary B. Daly, MD, PhD; Olufunmilayo I. Olopade, MD; Gail Tomlinson, MD, PhD; Joellen Schildkraut, PhD; Joanne L. Blum, MD, PhD; Timothy R. Rebbeck, PhD. JAMA. 2010;304(9):967-975. Impact factor 28.9.
  1. Mutation and association analysis of GEN1 in breast cancer susceptibility. Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D; Breast Cancer Susceptibility Collaboration UK, Stratton MR, Rahman N. Breast Cancer Res Treat. 2010 Nov;124(1):283-8.
  1. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D; EMBRACE, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C; GEMO, Hogervorst FB, Hooning MJ, Ligtenberg MJ; HEBON, Spurdle A, Chenevix-Trench G; kConFab, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL, Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF, Antoniou AC, Couch FJ. Hum Mol Genet. 2010 Jul 15;19(14):2886-97. Epub 2010 Apr 23.
  1. Novel one-stop Multidisciplinary Follow-Up Clinic significantly improves cancer risk management in BRCA1/2 carriers. Pichert G, Jacobs C, Jacobs I, Menon U, Manchanda R, Johnson M, Hamed H, Firth C, Evison M, Tutt A, de Silva L, Langman C and Izatt L. Familial cancer, in press. Impact factor 2.189.
  1. Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers. Domchek SM, Friebel TM, Garber JE, Isaacs C, Matloff E, Eeles R, Evans DG, Rubinstein W, Singer CF, Rubin S, Lynch HT, Daly MB, Weitzel J, Ganz PA, Pichert G, Olopade OI, Tomlinson G, Tung N, Blum JL, Couch F, Rebbeck TR. Breast Cancer Res Treat. 2010 Feb 24. Impact factor 4.696.
  1. Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Spurdle AB, Fahey P, Chen X, McGuffog L; kConFab, Easton D, Peock S, Cook M; EMBRACE, Simard J; INHERIT, Rebbeck TR; MAGIC, Antoniou AC, Chenevix-Trench G. Breast Cancer Res Treat. 2010 Jul;122(1):281-5.
  1. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S; KConFab, Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, Viel A, Tizzoni L, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai P, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, Weerasooriya N; OCGN, Gerdes AM, Thomassen M, Cruger DG, Caligo MA, Friedman E, Kaufman B, Laitman Y, Cohen S, Kontorovich T, Gershoni-Baruch R, Dagan E, Jernström H, Askmalm MS, Arver B, Malmer B; SWE-BRCA, Domchek SM, Nathanson KL, Brunet J, Ramón Y Cajal T, Yannoukakos D, Hamann U; HEBON, Hogervorst FB, Verhoef S, García EG, Wijnen JT, van den Ouweland A; EMBRACE, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Cook J, Hodgson S, Morrison PJ, Douglas F, Godwin AK; GEMO, Sinilnikova OM, Barjhoux L, Stoppa-Lyonnet D, Moncoutier V, Giraud S, Cassini C, Olivier-Faivre L, Révillion F, Peyrat JP, Muller D, Fricker JP, Lynch HT, John EM, Buys S, Daly M, Hopper JL, Terry MB, Miron A, Yassin Y, Goldgar D; Breast Cancer Family Registry, Singer CF, Gschwantler-Kaulich D, Pfeiler G, Spiess AC, Hansen TV, Johannsson OT, Kirchhoff T, Offit K, Kosarin K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Deißler H, Fiebig B, Varon-Mateeva R, Schaefer D, Froster UG, Caldes T, de la Hoya M, McGuffog L, Antoniou AC, Nevanlinna H, Radice P, Benítez J. Br J Cancer. 2009 Dec 15;101(12):2048-54. Impact factor 4.346.
  1. Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin. Robertson SJ, Bashir SJ, Pichert G, Robson A, Whittaker S. Clin Exp Dermatol. 2009 Oct 23. [Epub ahead of print]
  1. The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Sinilnikova OM, Antoniou AC, Simard J, Healey S, Léoné M, Sinnett D, Spurdle AB, Beesley J, Chen X; kConFab, Greene MH, Loud JT, Lejbkowicz F, Rennert G, Dishon S, Andrulis IL; OCGN, Domchek SM, Nathanson KL, Manoukian S, Radice P, Konstantopoulou I, Blanco I, Laborde AL, Durán M, Osorio A, Benitez J, Hamann U, Hogervorst FB, van Os TA, Gille HJ; HEBON, Peock S, Cook M, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Brewer C; EMBRACE, Hughes DJ, Coupier I, Giraud S, Coulet F, Colas C, Soubrier F, Rouleau E, Bièche I, Lidereau R, Demange L, Nogues C, Lynch HT; GEMO, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Sutter C, Deissler H, Schaefer D, Froster UG; GC-HBOC, Aittomäki K, Nevanlinna H, McGuffog L, Easton DF, Chenevix-Trench G, Stoppa-Lyonnet D; Consortium of Investigators of Modifiers of BRCA1/2. Br J Cancer. 2009 Oct 20;101(8):1456-60.
  1. Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN, Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON, Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE, Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO, Goldgar D, Miron A, John EM, Buys SS, Daly MB, Hopper JL, Terry MB, Yassin Y; Breast Cancer Family Registry, Singer C, Gschwantler-Kaulich D, Staudigl C, Hansen TO, Barkardottir RB, Kirchhoff T, Pal P, Kosarin K, Offit K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Deissler H, Fiebig B, Suttner C, Schönbuchner I, Gadzicki D, Caldes T, de la Hoya M, Pooley KA, Easton DF, Chenevix-Trench G; CIMBA. Hum Mol Genet. 2009 Nov 15;18(22):4442-56.
  1. Longitudinal quality of life data can provide insights on the impact of adjuvant treatment for pancreatic cancer-Subset analysis of the ESPAC-1 data. Carter R, Stocken DD, Ghaneh P, Bramhall SR, Olah A, Kelemen D, Bassi C, Friess H, Dervenis C, Spry N, Büchler MW, Neoptolemos JP; European Study Group for Pancreatic Cancer (ESPAC).
  1. Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex. Vandersteen A, Turnbull J, Jan W, Simpson J, Lucas S, Anderson D, Lin JP, Stratakis C, Pichert G, Lim M.Eur J Pediatr. 2009 Nov;168(11):1401-4.
  1. No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Spurdle AB, Deans AJ, Duffy D, Goldgar DE, Chen X, Beesley J; kConFaB, Easton DF, Antoniou AC, Peock S, Cook M; EMBRACE Study Collaborators, Nathanson KL, Domchek SM, MacArthur GA, Chenevix-Trench G. Breast Cancer Res Treat. 2009 May;115(2):307-13.
  1. No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Johnatty SE, Couch FJ, Fredericksen Z, Tarrell R, Spurdle AB, Beesley J, Chen X; kConFab Investigators; AOCS Group; The Swedish BRCA1 and BRCA2 Study Collaborators, Gschwantler-Kaulich D, Singer CF, Fuerhauser C, Fink-Retter A, Domchek SM, Nathanson KL, Pankratz VS, Lindor NM, Godwin AK, Caligo MA, Hopper J, Southey MC, Giles GG, Justenhoven C, Brauch H, Hamann U, Ko YD, Heikkinen T, Aaltonen K, Aittomäki K, Blomqvist C, Nevanlinna H, Hall P, Czene K, Liu J, Peock S, Cook M, Platte R, Gareth Evans D, Lalloo F, Eeles R, Pichert G, Eccles D, Davidson R, Cole T, Cook J, Douglas F, Chu C, Hodgson S, Paterson J, Hogervorst FB, Rookus MA, Seynaeve C, Wijnen J, Vreeswijk M, Ligtenberg M, van der Luijt RB, van Os TA, Gille HJ, Blok MJ; HEBON, Issacs C, Humphreys MK, McGuffog L, Healey S, Sinilnikova O, Antoniou AC, Easton DF, Chenevix-Trench G; on behalf of the Breast Cancer Association Consortium and the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res Treat. 2009 Sep;117(2):371-9.
  1. Risk reducing mastectomy: outcomes in 10 European Centres. Evans G, Baildam A, Brain A, Anderson E, Shenton A, Vasen HF, Eccles D, Lucassen AM, Pichert G, Hamed H, Møller P, Mahle L, Morrison P, Stoppat-Lyonnet D, Gregory H, Smyth E, Niederacher D, Nestle-Krämling C, Campbell J, Lalloo F, Howell A. J J Med Genet. 2009 Apr;46(4):254-8. Impact factor: 5.087
  1. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X; Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H; OCGN, Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E; Swedish BRCA1 and BRCA2 study collaborators, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM; DNA-HEBON collaborators, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F; EMBRACE, Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D; GEMO, Chenevix-Trench G, Easton DF; CIMBA.. Am J Hum Genet. 2008 Apr;82(4):937-48. Impact Factor: 5.087
  1. No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Spurdle AB, Deans AJ, Duffy D, Goldgar DE, Chen X, Beesley J; kConFaB, Easton DF, Antoniou AC, Peock S, Cook M; EMBRACE Study Collaborators, Nathanson KL, Domchek SM, MacArthur GA, Chenevix-Trench G. Breast Cancer Res Treat. 2009 May;115(2):307-13. Epub 2008 Jun 10.
  1. No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, Simard J, Spurdle AB; KConFab, Couch FJ, Pereira LH, Greene MH, Andrulis IL; Ontario Cancer Genetics Network, Pasche B, Kaklamani V; Breast Cancer Family Registry, Hamann U, Szabo C, Peock S, Cook M, Harrington PA, Donaldson A, Male AM, Gardiner CA, Gregory H, Side LE, Robinson AC, Emmerson L, Ellis I; EMBRACE, Peyrat JP, Fournier J, Vennin P, Adenis C, Muller D, Fricker JP, Longy M, Sinilnikova OM, Stoppa-Lyonnet D; GEMO, Schmutzler RK, Versmold B, Engel C, Meindl A, Kast K, Schaefer D, Froster UG, Chenevix-Trench G, Easton DF. Breast Cancer Res Treat. 2009 May;115(1):185-92.
  1. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
  1. Antoniou AC, Spurdle AB, Sinilnikova OM, Healey S, Pooley KA, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deissler H, Caldes T, Kämpjärvi K, Nevanlinna H, Simard J, Beesley J, Chen X; Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LH, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H; OCGN, Gerdes AM, Caligo MA, Laitman Y, Kaufman B, Milgrom R, Friedman E; Swedish BRCA1 and BRCA2 study collaborators, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benítez J, Hamann U, Hogervorst FB, Manders P, Ligtenberg MJ, van den Ouweland AM; DNA-HEBON collaborators, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu C, Eccles D, Davidson R, Douglas F; EMBRACE, Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D; GEMO, Chenevix-Trench G, Easton DF; CIMBA. Am J Hum Genet. 2008 Apr;82(4):937-48. Epub 2008 Mar 20.
  1. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, Shanley S, Pichert G, Izatt L, Rose S, Douglas F, Eccles D, Morrison PJ, Scott J, Zimmern RL, Easton DF, Pharoah PD.. J Med Genet. 2008 Jul;45(7):425-31. Impact Factor: 5.087
  1. Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? M. D’Alessandro, SE. Coats, SM. Morley, L. Mackintosh, G. Tessari, A. Turco, AM. Gerdes, Pichert, S. Whittaker, F. Brandrup, S. Broesby-Olsen, M. Gomez-Lira, G. Girolomoni, JC. Maize, MA. Ferguson-Smith, DR, Goudie, EB Lane. J Invest Dermatol. 2007 Oct;127(10):2336-44. Impact factor: 4.53
  1. Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including MLPA. Evans DG, Ramsden R, Shenton A, Gokhale C, Bowers NL, Huson SM, Pichert G, Wallace A. J Med Genet. 2007 Jul;44(7):424-8. Impact factor: 5.087
  1. Gene promoter hypermethylation in ductal lavage fluid from healthy BRCA gene mutation carriers and mutation-negative controls. Locke I, Kote-Jarai Z, Fackler MJ, Bancroft E, Osin P, Nerurkar A, Izatt L, Pichert G, Gui GP, Eeles RA. Breast Cancer Res. 2007;9(1):R20. Impact factor: 4.16
  1. Loss of heterozygosity at the BRCA1 and BRCA2 loci detected in ductal lavage fluid from BRCA gene mutation carriers and controls. Locke I, Kote-Jarai Z, Bancroft E, Bullock S, Jugurnauth S, Osin P, Nerurkar A, Izatt L, Pichert G, Gui GP, Eeles RA. Cancer Epidemiol Biomarkers Prev. 2006 Jul;15(7):1399-402. Impact factor 3.96
  1. Familial ovarian cancer screening. Stirling D, Porteous ME, Evans DG, Pichert G, Steel M. J Clin Oncol. 2006 Feb 20;24(6):e11 (Letter). Impact factor: 8.77.
  1. Screening for Familial Ovarian Cancer: Failure of current protocols to detect ovarian cancer at an early stage according to the International Federation of Gynecology and Obstetrics System. Stirling D, Evans DG, Pichert G, Shenton A, Kirk E, Rimmer S, Steel M, Lawson S, Busby-Earle RMC, Walker J, Lalloo F, Eccles D, Lucassen A, Porteous ME. J Clin Oncol, 24; 2005. Impact factor: 8.77.
  1. Effect of single agent rituximab given at the standard schedule as prolonged treatment in patients with mantle cell lymphoma. Ghielmini M, Hsu Schmitz S, Cogliatti SB, Bertoni F, Waltzer U, Fey MF, Betticher DC, Schefer H, Pichert G, Stahel RA, Ketter M, Bargetzi M and Cerny T. J Clin Oncol, 23:705-711, 2005. Impact factor: 8.77.
  1. RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. Sharp A, Pichert G, Lucassen A, Eccles D. Hum Mutat. 2004 Sep;24(3):272.. Human Mutation 24 (3):272, 2004. Impact factor 6.32
  1. Prolonged treatment with Rituximab in Patients with Follicular Lymphoma significantly increases event-free survival and response duration compared to the standard weekly x 4 schedule. Ghielmini M, Hsu Schmitz S, Cogliatti SB, Pichert G, Hummerjohann J, Fey M, Betticher D, Martinelli G, Peccatori F, Hess U, Zucca E, Stupp R, Kovacovics T, Helg C, Lohri A, Bargetzi M. Vorobiof D and Cerny T. Blood 103 (12): 4416-4423, 2004. Impact factor: 10.12
  1. Immunoglobulin heavy chain genes somatic hypermutations and chromosome 11q22-23 deletion in classic mantle cell lymphoma: a study of the Swiss Group for Clinical Cancer research. Bertoni F, Connconi A, Cogliatti SB, Hsu Schmitz SF, Ghielmini M, Cerny T, Fey M, Pichert G, Bertolini F, Ponzoni M, Baldini L, Jones C, Auer R, Martinelli G, Cavalli F, Zucca E and Cotter FE. British Journal of Haematology 124 (3): 289-298, 2004. Impact factor: 3.267
  1. Swiss Primary Care Physicians knowledge, attitudes and perception towards genetic testing for hereditary breast cancer. Pichert G, Dietrich D, Moosmann P, Zwahlen M, Stahel RA and Sappino AP. Familial cancer 2 (3-4): 153-158, 2003.
  1. Severe hepatic toxicity due to Thalidomide in Relapsed Multiple Myeloma. Trojan A, Chasse E, Gay B, Pichert G and Taverna Ch. Annals of Oncology 14:501-502, 2003. Impact factor: 3.605
  1. Evidence based management options for women at increased breast/ovarian cancer risk. Pichert G, Bolliger B, Buser K and Pagani O for the Swiss Institute for Applied Cancer Research Network for Cancer Predisposition Testing and Counseling. Annals of Oncology 14:9-19, 2003. Impact factor: 3.605
  1. Weekly x 4 induction therapy with the anti-CD20 antibody IDEC C2B8=Rituximab: Effect on circulating t(14;18)+ follicular lymphoma cells. Pichert G, Schmitz SF, Hess U, Cerny Th, Betticher D, Stupp R, Stahel RA and Ghielmini M. Clinical Lymphoma, 1: 293-298, 2001.
  1. Organizing Cancer Genetics Programs: The Swiss Model. Pichert G and Stahel RA. J Clin Oncol, 18 (Nov 1 suppl): 65-69, 2000, Impact factor: 8.77.
  1. The effect of Rituximab on patients with follicular and mantle cell lymphoma. Ghielmini M, Hsu Schmitz SF, Bürki K, Pichert G, Betticher D, Stupp R, Wernli M, Herrmann R, Schmitter D, Zucca E and Cerny T. Ann. of Oncol, 11: 123-126, 2000. Impact factor: 3.249.
  1. Involvement of the CD27-CD70 costimulatory pathway in allogeneic T-cell response to follicular lymphoma cells. Schmitter D, Bolliger U, Hallek M and Pichert G. British Journal of Haematology, 106: 64-70, 1999, Impact factor: 3.204.
  1. Fate of contaminating t(14;18)+ lymphoma cells during ex vivo expansion of CD34-selected hematopoietic progenitor cells. Widmer L, Pichert G, Jost LM and Stahel RA. Blood, 88: 3166-3175, 1996, Impact factor: 9.745.
  1. A prospective study of risk adapted therapy for large cell non-Hodgkin`s lymphoma with VACOP-B followed by high dose CBV and autologous progenitor cell transplantation. Stahel RA, Jost LM; Kroner T, Dommann-Scherrer C, Maurer R, Glanzmann C, Jacky E, Pichert G, Pestalozzi B, Marincek B, Sauter C and Honegger HP. British Journal of Haematology, 104: 763-769, 1999, Impact factor: 3.449.
  1. Selection and immunopurging of CD34+ cells for autologous transplantation in non-Hodgkin`s lymphoma. Pichert G, Schmitter D, Widmer L, Jost LM, Kurer M, Maurer R and Stahel RA. of Oncol, 9: 51-54, 1998, Impact factor: 2.256.
  1. T-cell derived cytokines costimulate proliferation of CD40-activated germinal center B-cells as well as follicular lymphoma cells. Schmitter D, Koss M, Niederer E, Stahel RA and Pichert G. Hematol-Oncol, 15: 197-207, 1997, Impact factor: 1.960.
  1. Distinct patterns of minimal residual disease are detected by PCR after T-cell depleted and untreated allogeneic transplants for chronic myelogenous leukemia. Pichert G, Roy DC, Gonin R, Soiffer RJ, Belanger R, Gyger M, Perrault C, Bonny Y, Lerra I, Murray C and Ritz J. J. Clin. Oncol, 13: 1704-1713, 1995, Impact factor: 7.9.
  1. Functional consequences of Apo1/Fas Antigen expression by normal and neoplastic cells. Robertson MJ, Manley TJ, Pichert G, Cameron Ch, Cochran KJ and Ritz J. Leukemia and Lymphoma, 17 (1-2): 51-61, 1995, Impact factor: 0.790.
  1. Persistence of myeloid progenitor cells expressing BCR-ABL mRNA after allogeneic bone marrow transplantation for chronic myelogenous leukemia. Pichert G, Alyea EP, Soiffer RJ, Roy DC, Ritz J. Blood. 1994 Oct 1;84(7):2109-14.Impact factor: 9.745.
  1. Randomized study of recombinant human granulocyte colony stimulating factor after high dose chemotherapy and autologous bone marrow transplantation for high risk lymphoid malignancies. Stahel RA, Jost LM, Cerny Th, Pichert G, Honegger HP, Tobler A, Jacky E, Fey M and Platzer E. J. Clin Oncol, 12: 1931-1938, 1994, Impact factor: 7.9.
  1. Five years of dosage intensification and autologous bone marrow or peripheral stem cell transfusion in malignant lymphoma with a high risk recurrence. Jost LM, Pichert G, Reichlin M, Müller E, Jacky E, Honegger HP, Gmür J and Stahel RA:. Med. Wschr, 123: 932-940, 1993, Impact factor: 0.255.
  1. Chemotherapy with MACOP-B and VACOP-B for intermediate and high grade Non-Hodgkin's lymphoma: Clinical results and analysis of prognostic factors. Pichert G, Peters J, Stahel RA, Domman C, Joss R, Gebbers JO, Kroner T, Sulser H, Honegger HP, Maurer R and Pampallona S. Ann. of Oncol, 3: 645-649, 1992, Impact factor: 2.256.
  1. Clinical and immune modulatory effects of alternative weekly interleukin-2 and interferon alpha-2a in patients with advanced renal cell carcinoma and melanoma. Pichert G, Jost LM, Fierz W and Stahel RA. Br. J. Cancer, 63: 287-292, 1991, Impact factor: 3.449.
  1. Placebo controlled phase I/II study of subcutanous GM-CSF in patients with germ cell tumors undergoing chemotherapy. Jost LM, Pichert G and Stahel, RA. Annals of Oncol, 1: 439-442, 1990, Impact factor: 2.256.
  1. Thyroiditis after treatment with interleukin-2 and interferon alpha-2a. Pichert G, Jost LM, Zöbeli L, Odermatt B and Stahel RA. Br. J. Cancer, 62: 100-104, 1990, Impact factor: 3.449.
  1. Conservative therapy of chronic subdural hematomas. Pichert G and Henn V: Schweiz. Wschr, 117: 1856-72. 1987, Impact factor: 0.255.
  1. Interrater reliability of AMDP and AMP symptoms. Kuny S, von Luckner N, Bänninger R, Baur P, Eichenberger G and Woggon B. Modern problems of Pharmacopsychiatry, 20: 143-60, 1983.
  1. Sendai virus hemolysis: Influence of lectins and analysis by immune fluorescence. Bächi T, Eichenberger G, and Hauri HP. Virology, 85: 518-30, 1978, Impact factor: 3.901

 

Rewievs:

  1. Pichert G. Genetic counselling in familial breast cancer. Therapeutische Umschau 2008 Apr: 65 (4):235-241. Impact factor 0.935.
  1. Eccles D and Pichert G. Familial non-BRCA1/2 breast cancer: causes and consequences. Lancet-Oncology, 6: 705-711, 2005, Impact Factor 7.4.
  1. Pichert G. Harnessing the potential of Cancer Genetics in Healthcare: The challenges. Lancet-Oncology, 5: 626-631, 2004. Impact Factor 7.4.
  1. Olopade OI and Pichert G. Cancer Genetics in Oncology Practice. Annals of Oncology 12: 895-908, 2001, Impact factor: 2.256.
  1. Stahel RA, Jost LM, Pichert G and Widmer L. High-dose chemotherapy and autologous bone marrow transplantation for malignant lymphomas. Cancer Treatment Reviews 21: 3-32, 1995, Impact factor: 3.106.
  1. Pichert G and Ritz J: Clinical significance of bcr-abl gene rearrangement detected by the polymerase chain reaction after allogeneic bone marrow transplantation in chronic myelogenous leukemia. Leukemia and Lymphoma 10: 1-8, 1993, Impact factor: 0.790.

 

Book chapters:

 

Breast Cancer. M Cariati, L Holmberg, J Mansi, P Parker, G Pichert, S Pinder, E Sawyer, R Wilson, A Purushotham. Oxford Textbook of Medicine, fifth edition, 13.8.3

Habilitation thesis

 

2000:  Minimal residual disease in hematologic malignancies

Read more

Dr Lucy Side

MB ChB MD FRCP(UK)

Lucy is Clinical Lead for Genetics at University Hospitals Southampton, having completed her specialist training in Oxford, and spent 9 years as a Consultant in Genetics at Great Ormond St Hospital. She is a Senior Research Associate at UCL Institute for Women’s Health where her interest is in gynaecological cancer susceptibility, and has published over 100 papers in peer reviewed journals. She sees patients who are requesting testing for inherited alterations in genes that increase cancer risk.

Dr Tessa Homfray

Dr Homfray is a consultant in medical genetics and works at both Royal Brompton and Harefield hospitals. She has special interest in the genetics of cardiac disease and fetal cardiac genetics. She also specialises in prenatal diagnosis and runs clinics at St George's fetal medicine unit as well as the Harris Birthright unit at King's College London.

Dr James Ware

James Ware Honorary Consultant Cardiologist at Royal Brompton and Harefield Hospitals and a Reader in Genomic Medicine at Imperial College London, Group Head at the MRC London Institute of Medical Sciences, and . Dr Ware graduated from the University of Cambridge in 2000, and pursued general medical training in Cambridge, London and Geneva before appointment to specialist training in Cardiology in 2007. After a PhD at the MRC Clinical Sciences Centre (CSC), funded by a Fellowship from the Wellcome Trust, he was appointed an NIHR Clinical Lecturer in 2012, and undertook post-doctoral research at the MRC CSC, Imperial College, Harvard Medical School, and the Broad Institute. He was awarded a Wellcome Trust Intermediate Clinical Fellowship in 2015 and returned from Boston to start his own research group.James’ overarching research aims are to understand the impact of genetic variation on the heart and circulation, and to use genome information to improve patient care.

Dr James Ware

His research group spans the https://www.imperial.ac.uk/www1.imperial.ac.uk/nhli/National Heart & Lung Institute, the Royal Brompton Cardiovascular Research Centre , and the MRC London Institute for Medical Sciences, and is supported by an Intermediate Clinical Fellowship from the Wellcome Trust.

Precision medicine – we are evaluating the use of genetic and other biomarkers to stratify patients and predict their response to therapy and long-term outcomes.  Ultimately, we are working to interpret genome information so that it can be used to optimise treatment choice for our patients.

Titin – we have a particular focus on the Titin gene, which encodes the largest human protein, a key component of muscles throughout the body.  Recently identified as the most important cause of inherited dilated cardiomyopathy, we are working to understand the effects of Titin variants on the heart, their mechanisms of action, and their clinical significance.

 

SELECTED PUBLICATIONS

JOURNAL ARTICLES

Walsh R, Mazzarotto F, Whiffin N, et al., 2019, Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy, Genome Medicine, Vol:11, ISSN:1756-994X

Halliday BP, Wassall R, Lota A, et al., 2019, Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial, The Lancet, Vol:393, ISSN:0140-6736, Pages:61-73

Ware JS, Amor-Salamanca A, Tayal U, et al., 2018, A genetic etiology for alcohol-induced cardiac toxicity, Journal of the American College of Cardiology, Vol:71, ISSN:0735-1097, Pages:2293-2302

Ware JS, Cook SA, 2017, Role of titin in cardiomyopathy: from DNA variants to patient stratification, Nature Reviews Cardiology, Vol:15, ISSN:1759-5002, Pages:241-252

Alamo L, Ware JS, Pinto A, et al., 2017, Effects of myosin variants on interacting heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes, Elife, Vol:6, ISSN:2050-084X

Whiffin N, Minikel E, Walsh R, et al., 2017, Using high-resolution variant frequencies to empower clinical genome interpretation, Genetics in Medicine, Vol:19, ISSN:1530-0366, Pages:1151-1158

Walsh R, Buchan R, Wilk A, et al., 2017, Defining the genetic architecture ofhypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes, European Heart Journal, Vol:38, ISSN:1522-9645, Pages:3461-3468

Schafer S, de Marvao A, Adami E, et al., 2016, Titin truncating variants affect heart function in disease cohorts and the general population, Nature Genetics, Vol:49, ISSN:1546-1718, Pages:46-53

Lek M, Karczewski KJ, Minikel EV, et al., 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, Vol:536, ISSN:0028-0836, Pages:285-291

Walsh R, Thomson KL, Ware JS, et al., 2016, Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples, Genetics in Medicine, Vol:19, ISSN:1530-0366, Pages:192-203

Ware JS, Li J, Mazaika E, et al., 2016, Shared Genetic Etiology of Peripartum and Dilated Cardiomyopathies, New England Journal of Medicine, Vol:374, ISSN:1533-4406, Pages:233-241

Homsy J, Zaidi S, Shen Y, et al., 2015, De novo mutations in congenital heart disease with neurodevelopmental and other birth defects, Science, Vol:350, ISSN:0036-8075, Pages:1262-1266

Roberts AM, Ware JS, Herman DS, et al., 2015, Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease., Sci Transl Med, Vol:7

McDermott-Roe C, Ye J, Ahmed R, et al., 2011, Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function, Nature, Vol:478, Pages:114-118

More Publications 

 

Read more

DR MICHAEL SANDBERG

Medical Director

Michael is Medical Director of 90 Sloane Street. He attended the American Society of Clinical Oncology meetings in Chicago for 5 years with Prof Ros Eeles. The concept of doing Whole Genome Screening (WGS) and the setting up of The London Genetic Centre initially developed from these meetings. They both had the vision that General practice is the correct setting for Whole Genome Screening (WGS) of the asymptomatic population with the ideal for WGS to be done together with a Medical and not in isolation. Michael is co-lead with Prof Eeles of The London Genetic Centre Study (90S Study) of Whole Genome Screening in General Practice, the first of its type in the UK.
Hon Clinical Fellow The Institute of Cancer Research

DR ANN-BRITT JONES

Ann-Britt trained in GU/HIV medicine at Chelsea and Westminster before starting a career in Clinical Oncology. She has a MSc in Epidemiology with research experience at the CDC in the USA and NICE in London. She is currently a Clinical Research Fellow at The Institute of Cancer Research under the tutelage of Professor Eeles. Her MD focuses on the Integration of Germline Genetic Variations to Precision Medicine in Healthcare in screening and treatment paradigms.