Literature DB >> 25194279

Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma.

Carolyn S Lee1, Aparna Bhaduri1, Angela Mah1, Whitney L Johnson2, Alexander Ungewickell1, Cody J Aros1, Christie B Nguyen1, Eon J Rios1, Zurab Siprashvili1, Aaron Straight2, Jinah Kim1, Sumaira Z Aasi1, Paul A Khavari3.   

Abstract

Here we report the discovery of recurrent mutations concentrated at an ultraviolet signature hotspot in KNSTRN, which encodes a kinetochore protein, in 19% of cutaneous squamous cell carcinomas (SCCs). Cancer-associated KNSTRN mutations, most notably those encoding p.Ser24Phe, disrupt chromatid cohesion in normal cells, occur in SCC precursors, correlate with increased aneuploidy in primary tumors and enhance tumorigenesis in vivo. These findings suggest a role for KNSTRN mutagenesis in SCC development.

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Year:  2014        PMID： 25194279      PMCID： PMC4324615          DOI： 10.1038/ng.3091

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  18 in total

1.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

2.  VarScan: variant detection in massively parallel sequencing of individual and pooled samples.

Authors:  Daniel C Koboldt; Ken Chen; Todd Wylie; David E Larson; Michael D McLellan; Elaine R Mardis; George M Weinstock; Richard K Wilson; Li Ding
Journal:  Bioinformatics       Date:  2009-06-19       Impact factor: 6.937

3.  SKAP associates with kinetochores and promotes the metaphase-to-anaphase transition.

Authors:  Lin Fang; Akiko Seki; Guowei Fang
Journal:  Cell Cycle       Date:  2009-09-13       Impact factor: 4.534

4.  Aneuploidy in actinic keratosis and Bowen's disease--increased risk for invasive squamous cell carcinoma?

Authors:  S Biesterfeld; K Pennings; E I Grussendorf-Conen; A Böcking
Journal:  Br J Dermatol       Date:  1995-10       Impact factor: 9.302

5.  Sunburn and p53 in the onset of skin cancer.

Authors:  A Ziegler; A S Jonason; D J Leffell; J A Simon; H W Sharma; J Kimmelman; L Remington; T Jacks; D E Brash
Journal:  Nature       Date:  1994 Dec 22-29       Impact factor: 49.962

6.  Cumulative haploinsufficiency and triplosensitivity drive aneuploidy patterns and shape the cancer genome.

Authors:  Teresa Davoli; Andrew Wei Xu; Kristen E Mengwasser; Laura M Sack; John C Yoon; Peter J Park; Stephen J Elledge
Journal:  Cell       Date:  2013-10-31       Impact factor: 41.582

7.  The astrin-kinastrin/SKAP complex localizes to microtubule plus ends and facilitates chromosome alignment.

Authors:  Anja K Dunsch; Emily Linnane; Francis A Barr; Ulrike Gruneberg
Journal:  J Cell Biol       Date:  2011-03-14       Impact factor: 10.539

8.  Pan-cancer patterns of somatic copy number alteration.

Authors:  Travis I Zack; Stephen E Schumacher; Scott L Carter; Andre D Cherniack; Gordon Saksena; Barbara Tabak; Michael S Lawrence; Cheng-Zhong Zhsng; Jeremiah Wala; Craig H Mermel; Carrie Sougnez; Stacey B Gabriel; Bryan Hernandez; Hui Shen; Peter W Laird; Gad Getz; Matthew Meyerson; Rameen Beroukhim
Journal:  Nat Genet       Date:  2013-10       Impact factor: 38.330

9.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962

10.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937
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  57 in total

1.  Absence of KNSTRN Mutation, a Cutaneous Squamous Carcinoma-Specific Mutation, in Other Solid Tumors and Leukemias.

Authors:  Ju Hwa Lee; Min Sung Kim; Nam Jin Yoo; Sug Hyung Lee
Journal:  Pathol Oncol Res       Date:  2015-10-03       Impact factor: 3.201

2.  Differential mutation frequencies in metastatic cutaneous squamous cell carcinomas versus primary tumors.

Authors:  Ayse Selen Yilmaz; Hatice Gulcin Ozer; Jessica L Gillespie; Dawn C Allain; Madison N Bernhardt; Karina Colossi Furlan; Leticia T F Castro; Sara B Peters; Priyadharsini Nagarajan; Stephen Y Kang; O Hans Iwenofu; Thomas Olencki; Theodoros N Teknos; Amanda Ewart Toland
Journal:  Cancer       Date:  2016-12-01       Impact factor: 6.860

Review 3.  Cutaneous squamous cell cancer (cSCC) risk and the human leukocyte antigen (HLA) system.

Authors:  Pooja Yesantharao; Wei Wang; Nilah M Ioannidis; Shadmehr Demehri; Alice S Whittemore; Maryam M Asgari
Journal:  Hum Immunol       Date:  2017-02-07       Impact factor: 2.850

4.  Genomic analysis of metastatic cutaneous squamous cell carcinoma.

Authors:  Yvonne Y Li; Glenn J Hanna; Alvaro C Laga; Robert I Haddad; Jochen H Lorch; Peter S Hammerman
Journal:  Clin Cancer Res       Date:  2015-01-14       Impact factor: 12.531

Review 5.  Squamous Cell Cancers: A Unified Perspective on Biology and Genetics.

Authors:  G Paolo Dotto; Anil K Rustgi
Journal:  Cancer Cell       Date:  2016-05-09       Impact factor: 31.743

6.  Atypical fibroxanthoma and pleomorphic dermal sarcoma harbor frequent NOTCH1/2 and FAT1 mutations and similar DNA copy number alteration profiles.

Authors:  Klaus G Griewank; Thomas Wiesner; Rajmohan Murali; Carina Pischler; Hansgeorg Müller; Christian Koelsche; Inga Möller; Cindy Franklin; Ioana Cosgarea; Antje Sucker; Dirk Schadendorf; Jörg Schaller; Susanne Horn; Thomas Brenn; Thomas Mentzel
Journal:  Mod Pathol       Date:  2017-11-03       Impact factor: 7.842

7.  ROCK-dependent phosphorylation of NUP62 regulates p63 nuclear transport and squamous cell carcinoma proliferation.

Authors:  Masaharu Hazawa; De-Chen Lin; Akiko Kobayashi; Yan-Yi Jiang; Liang Xu; Firli Rahmah Primula Dewi; Mahmoud Shaaban Mohamed; Mitsutoshi Nakada; Makiko Meguro-Horike; Shin-Ichi Horike; H Phillip Koeffler; Richard W Wong
Journal:  EMBO Rep       Date:  2017-12-07       Impact factor: 8.807

8.  Loss of Primary Cilia Drives Switching from Hedgehog to Ras/MAPK Pathway in Resistant Basal Cell Carcinoma.

Authors:  François Kuonen; Noelle E Huskey; Gautam Shankar; Prajakta Jaju; Ramon J Whitson; Kerri E Rieger; Scott X Atwood; Kavita Y Sarin; Anthony E Oro
Journal:  J Invest Dermatol       Date:  2019-01-29       Impact factor: 8.551

9.  Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.

Authors:  Ximena Bonilla; Laurent Parmentier; Bryan King; Fedor Bezrukov; Gürkan Kaya; Vincent Zoete; Vladimir B Seplyarskiy; Hayley J Sharpe; Thomas McKee; Audrey Letourneau; Pascale G Ribaux; Konstantin Popadin; Nicole Basset-Seguin; Rouaa Ben Chaabene; Federico A Santoni; Maria A Andrianova; Michel Guipponi; Marco Garieri; Carole Verdan; Kerstin Grosdemange; Olga Sumara; Martin Eilers; Iannis Aifantis; Olivier Michielin; Frederic J de Sauvage; Stylianos E Antonarakis; Sergey I Nikolaev
Journal:  Nat Genet       Date:  2016-03-07       Impact factor: 38.330

Review 10.  [Actinic keratoses].

Authors:  T Hommel; R-M Szeimies
Journal:  Hautarzt       Date:  2016-11       Impact factor: 0.751
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