Literature DB >> 8730291

Familial cluster of ovarian small cell carcinoma: a new mendelian entity?

M Longy1, C Toulouse, P Mage, J Chauvergne, M Trojani.   

Abstract

We report a pedigree in which three sisters had a particular type of ovarian cancer, small cell carcinoma of the hypercalcaemic type. This rare type of ovarian carcinoma is now well characterised by clinical and pathological findings and is well distinguished from other ovarian epithelial tumours and ovarian germ cell tumours. The occurrence of this rare type of cancer in several members of the same family and the existence of four other similar published observations raises the question of the genetic determination of this kind of tumour.

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Year:  1996        PMID： 8730291      PMCID： PMC1050585          DOI： 10.1136/jmg.33.4.333

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  20 in total

1.  Ovarian cancers in the young. Epidemiologic observations.

Authors:  F P Li; J F Fraumeni; N Dalager
Journal:  Cancer       Date:  1973-10       Impact factor: 6.860

2.  Sex cord tumor with annular tubules a distinctive ovarian tumor of the Peutz-Jeghers syndrome.

Authors:  R E Scully
Journal:  Cancer       Date:  1970-05       Impact factor: 6.860

3.  Ovarian dysgerminoma in three generations?

Authors:  S M Jackson
Journal:  J Med Genet       Date:  1967-06       Impact factor: 6.318

4.  Familial occurrence of mature ovarian teratomas.

Authors:  A Simon; G Ohel; A Neri; J G Schenker
Journal:  Obstet Gynecol       Date:  1985-08       Impact factor: 7.661

5.  Poorly differentiated (small cell) carcinoma of the ovary in young women: evidence supporting a germ cell origin.

Authors:  T M Ulbright; L M Roth; F B Stehman; A Talerman; E K Senekjian
Journal:  Hum Pathol       Date:  1987-02       Impact factor: 3.466

6.  Linkage of early-onset familial breast cancer to chromosome 17q21.

Authors:  J M Hall; M K Lee; B Newman; J E Morrow; L A Anderson; B Huey; M C King
Journal:  Science       Date:  1990-12-21       Impact factor: 47.728

7.  The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.

Authors:  J R Mann; J J Corkery; H J Fisher; A H Cameron; A Mayerová; U Wolf; A A Kennaugh; V Woolley
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

8.  Familial occurrence of small-cell carcinoma of the ovary.

Authors:  J Lamovec; M Bracko; O Cerar
Journal:  Arch Pathol Lab Med       Date:  1995-06       Impact factor: 5.534

9.  Small cell carcinoma of the ovary with hypercalcemia: a report of eleven cases.

Authors:  G R Dickersin; I W Kline; R E Scully
Journal:  Cancer       Date:  1982-01-01       Impact factor: 6.860

10.  Hereditary ovarian cancer. Heterogeneity in age at diagnosis.

Authors:  H T Lynch; P Watson; C Bewtra; T A Conway; C R Hippee; P Kaur; J F Lynch; B A Ponder
Journal:  Cancer       Date:  1991-03-01       Impact factor: 6.860
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  13 in total

1.  Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.

Authors:  Petar Jelinic; Jennifer J Mueller; Narciso Olvera; Fanny Dao; Sasinya N Scott; Ronak Shah; JianJiong Gao; Nikolaus Schultz; Mithat Gonen; Robert A Soslow; Michael F Berger; Douglas A Levine
Journal:  Nat Genet       Date:  2014-03-23       Impact factor: 38.330

2.  Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Authors:  Leora Witkowski; Jian Carrot-Zhang; Steffen Albrecht; Somayyeh Fahiminiya; Nancy Hamel; Eva Tomiak; David Grynspan; Emmanouil Saloustros; Javad Nadaf; Barbara Rivera; Catherine Gilpin; Ester Castellsagué; Rachel Silva-Smith; François Plourde; Mona Wu; Avi Saskin; Madeleine Arseneault; Rouzan G Karabakhtsian; Elizabeth A Reilly; Frederick R Ueland; Anna Margiolaki; Kitty Pavlakis; Sharon M Castellino; Janez Lamovec; Helen J Mackay; Lawrence M Roth; Thomas M Ulbright; Tracey A Bender; Vassilis Georgoulias; Michel Longy; Andrew Berchuck; Marc Tischkowitz; Inga Nagel; Reiner Siebert; Colin J R Stewart; Jocelyne Arseneau; W Glenn McCluggage; Blaise A Clarke; Yasser Riazalhosseini; Martin Hasselblatt; Jacek Majewski; William D Foulkes
Journal:  Nat Genet       Date:  2014-03-23       Impact factor: 38.330

3.  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

4.  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 5.  SMARCA4: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy.

Authors:  Kristina Mardinian; Jacob J Adashek; Gregory P Botta; Shumei Kato; Razelle Kurzrock
Journal:  Mol Cancer Ther       Date:  2021-10-12       Impact factor: 6.009

6.  Small Cell Ovarian Carcinomas - Characterisation of Two Rare Tumor Entities.

Authors:  K Münstedt; R Estel; T Dreyer; A Kurata; A Benz
Journal:  Geburtshilfe Frauenheilkd       Date:  2013-07       Impact factor: 2.915

7.  Loss of SMARCA4 Expression Is Both Sensitive and Specific for the Diagnosis of Small Cell Carcinoma of Ovary, Hypercalcemic Type.

Authors:  Niamh Conlon; Annacarolina Silva; Esther Guerra; Petar Jelinic; Brooke A Schlappe; Narciso Olvera; Jennifer J Mueller; Carmen Tornos; Achim A Jungbluth; Robert H Young; Esther Oliva; Douglas Levine; Robert A Soslow
Journal:  Am J Surg Pathol       Date:  2016-03       Impact factor: 6.394

Review 8.  SWI/SNF Complex Mutations in Gynecologic Cancers: Molecular Mechanisms and Models.

Authors:  Yemin Wang; Lien Hoang; Jennifer X Ji; David G Huntsman
Journal:  Annu Rev Pathol       Date:  2020-01-24       Impact factor: 23.472

9.  Small cell ovarian cancer in adolescents: report of two cases and review of the literature.

Authors:  M Rovithi; A G Pallis; A Kalykaki; E Lagoudaki; L Giannikaki; E N Stathopoulos; K Relakis; V Georgoulias
Journal:  Case Rep Med       Date:  2011-05-31

Review 10.  Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines.

Authors:  Marc Tischkowitz; Sidong Huang; Susana Banerjee; Jennifer Hague; William P D Hendricks; David G Huntsman; Jessica D Lang; Krystal A Orlando; Amit M Oza; Patricia Pautier; Isabelle Ray-Coquard; Jeffrey M Trent; Michael Witcher; Leora Witkowski; W Glenn McCluggage; Douglas A Levine; William D Foulkes; Bernard E Weissman
Journal:  Clin Cancer Res       Date:  2020-03-10       Impact factor: 13.801
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