Literature DB >> 34240211

Li-Fraumeni Syndrome in the Cancer Genomics Era.

William D Foulkes1, Paz Polak2.   

Abstract

Entities:  

Year:  2021        PMID： 34240211      PMCID： PMC8634324          DOI： 10.1093/jnci/djab118

Source DB:  PubMed          Journal:  J Natl Cancer Inst        ISSN： 0027-8874            Impact factor:   11.816


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  10 in total

1.  2009 version of the Chompret criteria for Li Fraumeni syndrome.

Authors:  Julie Tinat; Gaelle Bougeard; Stéphanie Baert-Desurmont; Stéphanie Vasseur; Cosette Martin; Emilie Bouvignies; Olivier Caron; Brigitte Bressac-de Paillerets; Pascaline Berthet; Catherine Dugast; Catherine Bonaïti-Pellié; Dominique Stoppa-Lyonnet; Thierry Frébourg
Journal:  J Clin Oncol       Date:  2009-08-03       Impact factor: 44.544

2.  Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?

Authors:  F P Li; J F Fraumeni
Journal:  Ann Intern Med       Date:  1969-10       Impact factor: 25.391

3.  A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer.

Authors:  Paz Polak; Jaegil Kim; Lior Z Braunstein; Rosa Karlic; Nicholas J Haradhavala; Grace Tiao; Daniel Rosebrock; Dimitri Livitz; Kirsten Kübler; Kent W Mouw; Atanas Kamburov; Yosef E Maruvka; Ignaty Leshchiner; Eric S Lander; Todd R Golub; Aviad Zick; Alexandre Orthwein; Michael S Lawrence; Rajbir N Batra; Carlos Caldas; Daniel A Haber; Peter W Laird; Hui Shen; Leif W Ellisen; Alan D D'Andrea; Stephen J Chanock; William D Foulkes; Gad Getz
Journal:  Nat Genet       Date:  2017-08-21       Impact factor: 38.330

4.  Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

Authors:  Huma Q Rana; Rebecca Gelman; Holly LaDuca; Rachel McFarland; Emily Dalton; Jennifer Thompson; Virginia Speare; Jill S Dolinsky; Elizabeth C Chao; Judy E Garber
Journal:  J Natl Cancer Inst       Date:  2018-08-01       Impact factor: 13.506

Review 5.  Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.

Authors:  Junne Kamihara; Huma Q Rana; Judy E Garber
Journal:  Hum Mutat       Date:  2014-06       Impact factor: 4.878

6.  Etiologic Index - A Case-Only Measure of BRCA1/2-Associated Cancer Risk.

Authors:  Raymond Hughley; Rosa Karlic; Himanshu Joshi; Clare Turnbull; William D Foulkes; Paz Polak
Journal:  N Engl J Med       Date:  2020-07-16       Impact factor: 176.079

7.  Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Authors:  Yasmine Zerdoumi; Raphaël Lanos; Sabine Raad; Jean-Michel Flaman; Gaëlle Bougeard; Thierry Frebourg; Isabelle Tournier
Journal:  Hum Mol Genet       Date:  2017-07-15       Impact factor: 6.150

8.  Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.

Authors:  Thierry Frebourg; Svetlana Bajalica Lagercrantz; Carla Oliveira; Rita Magenheim; D Gareth Evans
Journal:  Eur J Hum Genet       Date:  2020-05-26       Impact factor: 4.246

9.  Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.

Authors:  Elise M Fiala; Gowtham Jayakumaran; Audrey Mauguen; Jennifer A Kennedy; Nancy Bouvier; Yelena Kemel; Megan Harlan Fleischut; Anna Maio; Erin E Salo-Mullen; Margaret Sheehan; Angela G Arnold; Alicia Latham; Maria I Carlo; Karen Cadoo; Semanti Murkherjee; Emily K Slotkin; Tanya Trippett; Julia Glade Bender; Paul A Meyers; Leonard Wexler; Filemon S Dela Cruz; Nai-Kong Cheung; Ellen Basu; Alex Kentsis; Michael Ortiz; Jasmine H Francis; Ira J Dunkel; Yasmin Khakoo; Stephen Gilheeney; Sameer Farouk Sait; Christopher J Forlenza; Maria Sulis; Matthias Karajannis; Shakeel Modak; Justin T Gerstle; Todd E Heaton; Stephen Roberts; Ciyu Yang; Sowmya Jairam; Joseph Vijai; Sabine Topka; Danielle N Friedman; Zsofia K Stadler; Mark Robson; Michael F Berger; Nikolaus Schultz; Marc Ladanyi; Richard J O'Reilly; David H Abramson; Ozge Ceyhan-Birsoy; Liying Zhang; Diana Mandelker; Neerav N Shukla; Andrew L Kung; Kenneth Offit; Ahmet Zehir; Michael F Walsh
Journal:  Nat Cancer       Date:  2021-02-15

10.  Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Authors:  Elaine T Lim; Peter Würtz; Aki S Havulinna; Priit Palta; Taru Tukiainen; Karola Rehnström; Tõnu Esko; Reedik Mägi; Michael Inouye; Tuuli Lappalainen; Yingleong Chan; Rany M Salem; Monkol Lek; Jason Flannick; Xueling Sim; Alisa Manning; Claes Ladenvall; Suzannah Bumpstead; Eija Hämäläinen; Kristiina Aalto; Mikael Maksimow; Marko Salmi; Stefan Blankenberg; Diego Ardissino; Svati Shah; Benjamin Horne; Ruth McPherson; Gerald K Hovingh; Muredach P Reilly; Hugh Watkins; Anuj Goel; Martin Farrall; Domenico Girelli; Alex P Reiner; Nathan O Stitziel; Sekar Kathiresan; Stacey Gabriel; Jeffrey C Barrett; Terho Lehtimäki; Markku Laakso; Leif Groop; Jaakko Kaprio; Markus Perola; Mark I McCarthy; Michael Boehnke; David M Altshuler; Cecilia M Lindgren; Joel N Hirschhorn; Andres Metspalu; Nelson B Freimer; Tanja Zeller; Sirpa Jalkanen; Seppo Koskinen; Olli Raitakari; Richard Durbin; Daniel G MacArthur; Veikko Salomaa; Samuli Ripatti; Mark J Daly; Aarno Palotie
Journal:  PLoS Genet       Date:  2014-07-31       Impact factor: 5.917
  10 in total
  2 in total

1.  Li-Fraumeni Syndrome: A Rare Genetic Disorder.

Authors:  Faria Tazin; Harendra Kumar; Muhammad A Israr; Deborah Omoleye; Vern Orlang
Journal:  Cureus       Date:  2022-09-16

2.  Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings.

Authors:  Zishi Fang; Yan Su; Hailang Sun; Ming Ge; Zhan Qi; Chanjuan Hao; Suyun Qian; Xiaoli Ma
Journal:  BMC Pediatr       Date:  2021-12-27       Impact factor: 2.125
  2 in total

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