Literature DB >> 36221025

The European Journal of Human Genetics is turning 30: a selection of major cancer genetics papers published by the Journal.

Patrick R Benusiglio1,2.   

Abstract

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Year:  2022        PMID: 36221025      PMCID: PMC9554035          DOI: 10.1038/s41431-022-01148-0

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   5.351


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  17 in total

1.  Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England.

Authors:  Nicola Flaum; Robert D Morgan; George J Burghel; Michael Bulman; Andrew R Clamp; Jurjees Hasan; Claire L Mitchell; Doina Badea; Sarah Moon; Martin Hogg; Dennis Hadjiyiannakis; Tara Clancy; Helene Schlecht; Emma R Woodward; Emma J Crosbie; Richard J Edmondson; Andrew J Wallace; Gordon C Jayson; Fiona I Lalloo; Elaine F Harkness; D Gareth R Evans
Journal:  Eur J Hum Genet       Date:  2020-07-10       Impact factor: 4.246

2.  Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation.

Authors:  Mark Robson; Seock-Ah Im; Elżbieta Senkus; Binghe Xu; Susan M Domchek; Norikazu Masuda; Suzette Delaloge; Wei Li; Nadine Tung; Anne Armstrong; Wenting Wu; Carsten Goessl; Sarah Runswick; Pierfranco Conte
Journal:  N Engl J Med       Date:  2017-06-04       Impact factor: 91.245

3.  Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Authors:  Anneke Kievit; Federico Tessadori; Hannie Douben; Ingrid Jordens; Madelon Maurice; Jeannette Hoogeboom; Raoul Hennekam; Sheela Nampoothiri; Hülya Kayserili; Marco Castori; Margo Whiteford; Connie Motter; Catherine Melver; Michael Cunningham; Anne Hing; Nancy M Kokitsu-Nakata; Siulan Vendramini-Pittoli; Antonio Richieri-Costa; Annette F Baas; Corstiaan C Breugem; Karen Duran; Maarten Massink; Patrick W B Derksen; Wilfred F J van IJcken; Leontine van Unen; Fernando Santos-Simarro; Pablo Lapunzina; Vera L Gil-da Silva Lopes; Elaine Lustosa-Mendes; Max Krall; Anne Slavotinek; Victor Martinez-Glez; Jeroen Bakkers; Koen L I van Gassen; Annelies de Klein; Marie-José H van den Boogaard; Gijs van Haaften
Journal:  Eur J Hum Genet       Date:  2018-01-18       Impact factor: 4.246

4.  Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for "Lynch-like syndrome" including young patients.

Authors:  Cedrick Lefol; Emilie Sohier; Christian Baudet; Pierre Naïbo; Eric Ruano; Chloé Grand-Masson; Alain Viari; Qing Wang
Journal:  Eur J Hum Genet       Date:  2020-12-05       Impact factor: 4.246

5.  Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer.

Authors:  Andrew N J Tutt; Judy E Garber; Bella Kaufman; Giuseppe Viale; Debora Fumagalli; Priya Rastogi; Richard D Gelber; Evandro de Azambuja; Anitra Fielding; Judith Balmaña; Susan M Domchek; Karen A Gelmon; Simon J Hollingsworth; Larissa A Korde; Barbro Linderholm; Hanna Bandos; Elżbieta Senkus; Jennifer M Suga; Zhimin Shao; Andrew W Pippas; Zbigniew Nowecki; Tomasz Huzarski; Patricia A Ganz; Peter C Lucas; Nigel Baker; Sibylle Loibl; Robin McConnell; Martine Piccart; Rita Schmutzler; Guenther G Steger; Joseph P Costantino; Amal Arahmani; Norman Wolmark; Eleanor McFadden; Vassiliki Karantza; Sunil R Lakhani; Greg Yothers; Christine Campbell; Charles E Geyer
Journal:  N Engl J Med       Date:  2021-06-03       Impact factor: 176.079

6.  Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Authors:  Jamal Ghoumid; Morgane Stichelbout; Anne-Sophie Jourdain; Frederic Frenois; Sophie Lejeune-Dumoulin; Marie-Pierre Alex-Cordier; Marine Lebrun; Pierre Guerreschi; Veronique Duquennoy-Martinot; Matthieu Vinchon; Joel Ferri; Matthieu Jung; Serge Vicaire; Clemence Vanlerberghe; Fabienne Escande; Florence Petit; Sylvie Manouvrier-Hanu
Journal:  Genet Med       Date:  2017-03-16       Impact factor: 8.822

7.  Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Authors:  Rachel Pearlman; Wendy L Frankel; Benjamin J Swanson; Dan Jones; Weiqiang Zhao; Ahmet Yilmaz; Kristin Miller; Jason Bacher; Christopher Bigley; Lori Nelsen; Paul J Goodfellow; Richard M Goldberg; Electra Paskett; Peter G Shields; Jo L Freudenheim; Peter P Stanich; Ilene Lattimer; Mark Arnold; Thomas W Prior; Mitchell Haut; Matthew F Kalady; Brandie Heald; Ian Paquette; David J Draper; Joanna M Brell; Sameer Mahesh; Kisa Weeman; Shyamal Bastola; Jeffrey Zangmeister; Aruna Gowda; Filix Kencana; Albert Malcolm; Yinong Liu; Sharon Cole; Charles Bane; Chaoyang Li; Esther Rehmus; Colin C Pritchard; Brian H Shirts; Angela Jacobson; Shelly A Cummings; Albert de la Chapelle; Heather Hampel
Journal:  JCO Precis Oncol       Date:  2021-05-05

8.  A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.

Authors:  Oriol Calvete; Paula Martinez; Pablo Garcia-Pavia; Carlos Benitez-Buelga; Beatriz Paumard-Hernández; Victoria Fernandez; Fernando Dominguez; Clara Salas; Nuria Romero-Laorden; Jesus Garcia-Donas; Jaime Carrillo; Rosario Perona; Juan Carlos Triviño; Raquel Andrés; Juana María Cano; Bárbara Rivera; Luis Alonso-Pulpon; Fernando Setien; Manel Esteller; Sandra Rodriguez-Perales; Gaelle Bougeard; Tierry Frebourg; Miguel Urioste; Maria A Blasco; Javier Benítez
Journal:  Nat Commun       Date:  2015-09-25       Impact factor: 17.694

9.  Germline mutations in shelterin complex genes are associated with familial glioma.

Authors:  Matthew N Bainbridge; Georgina N Armstrong; M Monica Gramatges; Alison A Bertuch; Shalini N Jhangiani; Harsha Doddapaneni; Lora Lewis; Joseph Tombrello; Spyros Tsavachidis; Yanhong Liu; Ali Jalali; Sharon E Plon; Ching C Lau; Donald W Parsons; Elizabeth B Claus; Jill Barnholtz-Sloan; Dora Il'yasova; Joellen Schildkraut; Francis Ali-Osman; Siegal Sadetzki; Christoffer Johansen; Richard S Houlston; Robert B Jenkins; Daniel Lachance; Sara H Olson; Jonine L Bernstein; Ryan T Merrell; Margaret R Wrensch; Kyle M Walsh; Faith G Davis; Rose Lai; Sanjay Shete; Kenneth Aldape; Christopher I Amos; Patricia A Thompson; Donna M Muzny; Richard A Gibbs; Beatrice S Melin; Melissa L Bondy
Journal:  J Natl Cancer Inst       Date:  2014-12-07       Impact factor: 11.816

10.  Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Authors:  Tristan L Lim; David B Lieberman; Adam R Davis; Alison W Loren; Ryan Hausler; Ashkan Bigdeli; Yimei Li; Jacquelyn Powers; Anna Raper; Shannon A Carty; Katherine L Nathanson; Adam Bagg; Elizabeth O Hexner; Kara N Maxwell; Jennifer J D Morrissette; Daria V Babushok
Journal:  Leukemia       Date:  2021-06-30       Impact factor: 11.528

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