Literature DB >> 24658001

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Pilar Ramos1, Anthony N Karnezis2, David W Craig3, Aleksandar Sekulic4, Megan L Russell3, William P D Hendricks3, Jason J Corneveaux3, Michael T Barrett3, Karey Shumansky5, Yidong Yang5, Sohrab P Shah6, Leah M Prentice7, Marco A Marra8, Jeffrey Kiefer3, Victoria L Zismann3, Troy A McEachron3, Bodour Salhia3, Jaime Prat9, Emanuela D'Angelo9, Blaise A Clarke10, Joseph G Pressey11, John H Farley12, Stephen P Anthony13, Richard B S Roden14, Heather E Cunliffe15, David G Huntsman16, Jeffrey M Trent17.   

Abstract

Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.

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Year:  2014        PMID： 24658001      PMCID： PMC4332808          DOI： 10.1038/ng.2928

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


  15 in total

1.  Small cell carcinoma of the ovary of hypercalcemic type: a case report.

Authors:  J Matt McDonald; Rouzan G Karabakhtsian; Heather H Pierce; Joseph A Iocono; Christopher P Desimone; Sherry L Bayliff; Frederick R Ueland
Journal:  J Pediatr Surg       Date:  2012-03       Impact factor: 2.545

2.  Functional epigenetics approach identifies BRM/SMARCA2 as a critical synthetic lethal target in BRG1-deficient cancers.

Authors:  Gregory R Hoffman; Rami Rahal; Frank Buxton; Kay Xiang; Gregory McAllister; Elizabeth Frias; Linda Bagdasarian; Janina Huber; Alicia Lindeman; Dongshu Chen; Rodrigo Romero; Nadire Ramadan; Tanushree Phadke; Kristy Haas; Mariela Jaskelioff; Boris G Wilson; Matthew J Meyer; Veronica Saenz-Vash; Huili Zhai; Vic E Myer; Jeffery A Porter; Nicholas Keen; Margaret E McLaughlin; Craig Mickanin; Charles W M Roberts; Frank Stegmeier; Zainab Jagani
Journal:  Proc Natl Acad Sci U S A       Date:  2014-02-11       Impact factor: 11.205

3.  An immunohistochemical analysis of ovarian small cell carcinoma of hypercalcemic type.

Authors:  W G McCluggage; E Oliva; L E Connolly; H A McBride; R H Young
Journal:  Int J Gynecol Pathol       Date:  2004-10       Impact factor: 2.762

4.  Residual complexes containing SMARCA2 (BRM) underlie the oncogenic drive of SMARCA4 (BRG1) mutation.

Authors:  Boris G Wilson; Katherine C Helming; Xiaofeng Wang; Youngha Kim; Francisca Vazquez; Zainab Jagani; William C Hahn; Charles W M Roberts
Journal:  Mol Cell Biol       Date:  2014-01-13       Impact factor: 4.272

5.  A synthetic lethality-based strategy to treat cancers harboring a genetic deficiency in the chromatin remodeling factor BRG1.

Authors:  Takahiro Oike; Hideaki Ogiwara; Yuichi Tominaga; Kentaro Ito; Osamu Ando; Koji Tsuta; Tatsuji Mizukami; Yoko Shimada; Hisanori Isomura; Mayumi Komachi; Koh Furuta; Shun-Ichi Watanabe; Takashi Nakano; Jun Yokota; Takashi Kohno
Journal:  Cancer Res       Date:  2013-07-19       Impact factor: 12.701

6.  Small cell carcinoma of the ovary, hypercalcemic type. A clinicopathological analysis of 150 cases.

Authors:  R H Young; E Oliva; R E Scully
Journal:  Am J Surg Pathol       Date:  1994-11       Impact factor: 6.394

7.  Tissue microarrays for high-throughput molecular profiling of tumor specimens.

Authors:  J Kononen; L Bubendorf; A Kallioniemi; M Bärlund; P Schraml; S Leighton; J Torhorst; M J Mihatsch; G Sauter; O P Kallioniemi
Journal:  Nat Med       Date:  1998-07       Impact factor: 53.440

8.  Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and SMARCA4 gene inactivation. a pilot study.

Authors:  J Kupryjańczyk; A Dansonka-Mieszkowska; J Moes-Sosnowska; J Plisiecka-Hałasa; L Szafron; A Podgórska; I K Rzepecka; B Konopka; A Budziłowska; A Rembiszewska; W Grajkowska; B Spiewankiewicz
Journal:  Pol J Pathol       Date:  2013-12       Impact factor: 1.072

9.  Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics.

Authors:  Lisa F Gamwell; Karen Gambaro; Maria Merziotis; Colleen Crane; Suzanna L Arcand; Valerie Bourada; Christopher Davis; Jeremy A Squire; David G Huntsman; Patricia N Tonin; Barbara C Vanderhyden
Journal:  Orphanet J Rare Dis       Date:  2013-02-21       Impact factor: 4.123

10.  The BRG1 chromatin remodeler protects against ovarian cysts, uterine tumors, and mammary tumors in a lineage-specific manner.

Authors:  Daniel W Serber; Allison Rogala; Maisam Makarem; Gary B Rosson; Karl Simin; Virginia Godfrey; Terry Van Dyke; Connie J Eaves; Scott J Bultman
Journal:  PLoS One       Date:  2012-02-21       Impact factor: 3.240
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  101 in total

Review 1.  Biology and Treatment of Rhabdoid Tumor.

Authors:  James I Geller; Jacquelyn J Roth; Jaclyn A Biegel
Journal:  Crit Rev Oncog       Date:  2015

2.  The histone methyltransferase EZH2 is a therapeutic target in small cell carcinoma of the ovary, hypercalcaemic type.

Authors:  Yemin Wang; Shary Yuting Chen; Anthony N Karnezis; Shane Colborne; Nancy Dos Santos; Jessica D Lang; William Pd Hendricks; Krystal A Orlando; Damian Yap; Friedrich Kommoss; Marcel B Bally; Gregg B Morin; Jeffrey M Trent; Bernard E Weissman; David G Huntsman
Journal:  J Pathol       Date:  2017-06-02       Impact factor: 7.996

3.  Histone Deacetylase Inhibitors Synergize with Catalytic Inhibitors of EZH2 to Exhibit Antitumor Activity in Small Cell Carcinoma of the Ovary, Hypercalcemic Type.

Authors:  Yemin Wang; Shary Yuting Chen; Shane Colborne; Galen Lambert; Chae Young Shin; Nancy Dos Santos; Krystal A Orlando; Jessica D Lang; William P D Hendricks; Marcel B Bally; Anthony N Karnezis; Ralf Hass; T Michael Underhill; Gregg B Morin; Jeffrey M Trent; Bernard E Weissman; David G Huntsman
Journal:  Mol Cancer Ther       Date:  2018-09-19       Impact factor: 6.261

Review 4.  SWI/SNF chromatin remodeling complexes and cancer.

Authors:  Jaclyn A Biegel; Tracy M Busse; Bernard E Weissman
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-08-28       Impact factor: 3.908

5.  Genetics: SMARCA4 mutated in SCCOHT.

Authors:  Alessia Errico
Journal:  Nat Rev Clin Oncol       Date:  2014-04-15       Impact factor: 66.675

Review 6.  SWI/SNF Complexes in Ovarian Cancer: Mechanistic Insights and Therapeutic Implications.

Authors:  Takeshi Fukumoto; Elizabeth Magno; Rugang Zhang
Journal:  Mol Cancer Res       Date:  2018-07-23       Impact factor: 5.852

7.  A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

Authors:  Víctor Faundes; Geraldine Malone; William G Newman; Siddharth Banka
Journal:  J Hum Genet       Date:  2018-11-20       Impact factor: 3.172

8.  Aberrant chromatin remodeling in gynecological cancer.

Authors:  Ryuichiro Okawa; Kouji Banno; Miho Iida; Megumi Yanokura; Takashi Takeda; Moito Iijima; Haruko Kunitomi-Irie; Kanako Nakamura; Masataka Adachi; Kiyoko Umene; Yuya Nogami; Kenta Masuda; Yusuke Kobayashi; Eiichiro Tominaga; Daisuke Aoki
Journal:  Oncol Lett       Date:  2017-09-06       Impact factor: 2.967

9.  The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.

Authors:  Leora Witkowski; Catherine Goudie; Pilar Ramos; Talia Boshari; Jean-Sebastien Brunet; Anthony N Karnezis; Michel Longy; James A Knost; Emmanouil Saloustros; W Glenn McCluggage; Colin J R Stewart; William P D Hendricks; Heather Cunliffe; David G Huntsman; Patricia Pautier; Douglas A Levine; Jeffrey M Trent; Andrew Berchuck; Martin Hasselblatt; William D Foulkes
Journal:  Gynecol Oncol       Date:  2016-03-19       Impact factor: 5.482

10.  Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.

Authors:  Anthony N Karnezis; Lien N Hoang; Mackenzie Coatham; Sarah Ravn; Noorah Almadani; Basile Tessier-Cloutier; Julie Irving; Bo Meng; Xiaodong Li; Christine Chow; Jessica McAlpine; Kuan-Ting Kuo; Tsui-Lien Mao; Bojana Djordjevic; Robert A Soslow; David G Huntsman; C Blake Gilks; Martin Köbel; Cheng-Han Lee
Journal:  Mod Pathol       Date:  2016-01-08       Impact factor: 7.842
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