M
Marc Tischkowitz
Researcher at National Institute for Health Research
Publications - 201
Citations - 14641
Marc Tischkowitz is an academic researcher from National Institute for Health Research. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 47, co-authored 151 publications receiving 10938 citations. Previous affiliations of Marc Tischkowitz include King's College London & McGill University.
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Journal ArticleDOI
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
Karoline Kuchenbaecker,Karoline Kuchenbaecker,John L. Hopper,Daniel R. Barnes,Kelly-Anne Phillips,T.M. Mooij,Marie-José Roos-Blom,Marie-José Roos-Blom,Sarah Jervis,Sarah Jervis,Flora E. van Leeuwen,Roger L. Milne,Roger L. Milne,Nadine Andrieu,David E. Goldgar,Mary Beth Terry,Matti A. Rookus,Douglas F. Easton,Antonis C. Antoniou,Lesley McGuffog,D. Gareth Evans,Daniel Barrowdale,Debra Frost,Julian Adlard,Kai-ren Ong,Louise Izatt,Marc Tischkowitz,Ros Eeles,Rosemarie Davidson,Shirley Hodgson,Steve Ellis,Catherine Noguès,Christine Lasset,Dominique Stoppa-Lyonnet,Dominique Stoppa-Lyonnet,Jean-Pierre Fricker,Laurence Faivre,Pascaline Berthet,Maartje J. Hooning,Lizet E. van der Kolk,Carolien M. Kets,Muriel A. Adank,Esther M. John,Wendy K. Chung,Irene L. Andrulis,Irene L. Andrulis,Melissa C. Southey,Mary B. Daly,Saundra S. Buys,Ana Osorio,Christoph Engel,Karin Kast,Rita K. Schmutzler,Trinidad Caldés,Anna Jakubowska,Jacques Simard,Michael Friedlander,Sue-Anne McLachlan,Sue-Anne McLachlan,Eva Machackova,Lenka Foretova,Yen Y. Tan,Yen Y. Tan,Christian F. Singer,Edith Olah,Anne-Marie Gerdes,Brita Arver,Håkan Olsson +67 more
TL;DR: To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location, a large cohort study recruited in 1997-2011 provides estimates of cancer risk based on BRCA1 and BRCa2 mutation carrier status.
Journal ArticleDOI
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
Nasim Mavaddat,Susan Peock,Debra Frost,Steve Ellis,Radka Platte,Elena Fineberg,D. Gareth Evans,Louise Izatt,Rosalind A. Eeles,Julian Adlard,Rosemarie Davidson,Diana Eccles,Trevor Cole,Jackie Cook,Carole Brewer,Marc Tischkowitz,Fiona Douglas,Shirley Hodgson,Lisa Walker,Mary Porteous,Patrick J. Morrison,Lucy Side,M. John Kennedy,C. E. Houghton,Alan Donaldson,Mark T. Rogers,Huw Dorkins,Zosia Miedzybrodzka,Helen Gregory,Jacqueline Eason,Julian Barwell,Emma McCann,Alex Murray,Antonis C. Antoniou,Douglas F. Easton +34 more
TL;DR: Prospective risk estimates for breast cancer, ovarian cancer, and contralateral breast cancer in a prospective series of mutation carriers confirm findings from retrospective studies that common breast cancer susceptibility alleles in combination are predictive of breast cancer risk for BRCA2 carriers.
Journal ArticleDOI
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
Douglas F. Easton,Paul D.P. Pharoah,Antonis C. Antoniou,Marc Tischkowitz,Sean V. Tavtigian,Katherine L. Nathanson,Peter Devilee,Alfons Meindl,Fergus J. Couch,Melissa C. Southey,David E. Goldgar,D. Gareth Evans,Georgia Chenevix-Trench,Nurul Hidayah Ab Rahman,Mark E. Robson,Susan M. Domchek,William D. Foulkes +16 more
TL;DR: An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer and it is difficult to draw firm conclusions from the data because of ascertainment bias and the lack of data from large populations.
Journal ArticleDOI
Breast-Cancer Risk in Families with Mutations in PALB2
Antonis C. Antoniou,Silvia Casadei,Tuomas Heikkinen,Daniel Barrowdale,Katri Pylkäs,Jonathan Roberts,Andy C. H. Lee,D. Subramanian,K De Leeneer,Florentia Fostira,Eva Tomiak,Susan L. Neuhausen,Zhi Ling Teo,Sofia Khan,Kristiina Aittomäki,Jukka S. Moilanen,Clare Turnbull,Sheila Seal,Arto Mannermaa,Anne Kallioniemi,Geoffrey J. Lindeman,Saundra S. Buys,Irene L. Andrulis,Paolo Radice,Carlo Tondini,Siranoush Manoukian,Amanda E. Toland,Penelope Miron,J. N. Weitzel,Susan M. Domchek,Bruce Poppe,Kathleen Claes,Drakoulis Yannoukakos,Patrick Concannon,Jonine L. Bernstein,Paul A. James,Douglas F. Easton,David E. Goldgar,John L. Hopper,Nazneen Rahman,Paolo Peterlongo,Heli Nevanlinna,Mary Claire King,Fergus J. Couch,Melissa C. Southey,Robert Winqvist,William D. Foulkes,Marc Tischkowitz +47 more
TL;DR: The data suggest the breast-cancer risk for PALB2 mutation carriers may overlap with that for BRCA1 mutation carriers, and loss-of-function mutations in PALB1 are an important cause of hereditary breast cancer.
Journal ArticleDOI
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Sarah Reid,Detlev Schindler,Helmut Hanenberg,Helmut Hanenberg,Karen Barker,Sandra Hanks,Reinhard Kalb,Kornelia Neveling,Patrick Kelly,Sheila Seal,Marcel Freund,Melanie Wurm,Sat Dev Batish,Sat Dev Batish,Francis P. Lach,Sevgi Yetgin,Heidemarie Neitzel,Hany Ariffin,Marc Tischkowitz,Marc Tischkowitz,Christopher G. Mathew,Arleen D. Auerbach,Nazneen Rahman +22 more
TL;DR: It is demonstrated that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to bIALlelic BRCA2 mutations, confer a high risk of childhood cancer.