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

被引：0

作者：

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

机构：

[1] Program in Cancer Genetics,Department of Oncology and Human Genetics

[2] McGill University,Department of Medical Genetics

[3] Lady Davis Institute and Segal Cancer Centre,Department of Human Genetics

[4] Jewish General Hospital,Department of Pathology

[5] McGill University,Department of Medical Genetics

[6] McGill University,Department of Genetics

[7] McGill University and Génome Québec Innovation Centre,Department of Pathology and Laboratory Medicine

[8] Montreal Children's Hospital,Department of Medical Oncology

[9] McGill University Health Centre,Department of Pathology and Laboratory Medicine

[10] McGill University,Pathology Department

[11] Research Institute,Department of Pediatrics

[12] McGill University Health Centre,Department of Pathology

[13] Children's Hospital of Eastern Ontario,Department of Medical Oncology

[14] University of Ottawa,Department of Pathology

[15] Children's Hospital of Eastern Ontario,Division of Gynecologic Oncology

[16] University of Ottawa,Department of Medical Genetics

[17] Hereditary Cancer Clinic,Department of Pathology

[18] University Hospital of Heraklion,Department of Pathology

[19] Markey Cancer Center,Department of Pathology Laboratory Medicine Program

[20] University of Kentucky,undefined

[21] Lexington,undefined

[22] Kentucky,undefined

[23] USA.,undefined

[24] National and Kapodistrian University of Athens,undefined

[25] Hematology/Oncology,undefined

[26] Wake Forest School of Medicine,undefined

[27] Institute of Oncology,undefined

[28] Princess Margaret Cancer Centre,undefined

[29] Indiana University School of Medicine,undefined

[30] Institut Bergonié,undefined

[31] Unité d'Oncogénétique,undefined

[32] Duke University Medical Center,undefined

[33] University of Cambridge,undefined

[34] Institute of Human Genetics,undefined

[35] Christian Albrechts University Kiel and University Hospital Schleswig-Holstein,undefined

[36] Campus Kiel,undefined

[37] School for Women's and Infants' Health,undefined

[38] University of Western Australia,undefined

[39] Perth,undefined

[40] Royal Victoria Hospital,undefined

[41] McGill University Health Centre,undefined

[42] McGill University,undefined

[43] Royal Group of Hospitals Trust,undefined

[44] University Health Network,undefined

[45] Institute of Neuropathology,undefined

[46] University Hospital–Münster,undefined

[47] Present address: Department of Pathology,undefined

[48] Montefiore Medical Center,undefined

[49] Albert Einstein College of Medicine,undefined

[50] Bronx,undefined

来源：

Nature Genetics | 2014年 / 46卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

William Foulkes and colleagues identify germline inactivating mutations in familial cases of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Through additional analysis of non-familial tumors, the authors find that nearly 100% of tumors carry SMARCA4 mutations and 38 of 40 lack protein expression, implicating SMARCA4 loss as the major cause of SCCOHT.

引用

页码：438 / 443

页数：5

共 50 条

[1] Germ line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Witkowski, Leora
Carrot-Zhang, Jian
Albrecht, Steffen
Fahiminiya, Somayyeh
Hamel, Nancy
Tomiak, Eva
Grynspan, David
Saloustros, Emmanouil
Nadaf', Javad
Rivera, Barbara
Gilpin, Catherine
Castellsague, Ester
Silva-Smith, Rachel
Plourde, Francois
Wu, Mona
Saskin, Avi
Arseneault, Madeleine
Karabakhtsian, Rouzan G.
Reilly, Elizabeth A.
Ueland, Frederick R.
Margiolaki, Anna
Pavlakis, Kitty
Castellino, Sharon M.
Lamovec, Janez
Mackay, Helen J.
Roth, Lawrence M.
Ulbright, Thomas M.
Bender, Tracey A.
Georgoulias, Vassilis
Longy, Michel
Berchuck, Andrew
Tischkowitz, Marc
Nage, Inga
Siebert, Reiner
Stewart, Colin J. R.
Arseneau, Jocelyne
McCluggage, W. Glenn
Clarke, Blaise A.
Riazalhosseini, Yasser
Hasselblatt, Martin
Majewski, Jacek
Foulkes, William D.
NATURE GENETICS, 2014, 46 (05) : 438 - 443
[2] Small cell carcinoma of the ovary, hypercalcemic type displays frequent inactivating germline and somatic mutations in SMARCA4
Ramos, Pilar
Karnezis, Anthony N.
Craig, David W.
Sekulic, Aleksandar
Russell, Megan L.
Hendricks, William P. D.
Corneveaux, Jason J.
Barrett, Michael T.
Shumansky, Karey
Yang, Yidong
Shah, Sohrab P.
Prentice, Leah M.
Marra, Marco A.
Kiefer, Jeffrey
Zismann, Victoria L.
McEachron, Troy A.
Salhia, Bodour
Prat, Jaime
Clarke, Blaise A.
Pressey, Joseph G.
Farley, John H.
Anthony, Stephen P.
Roden, Richard B. S.
Cunliffe, Heather E.
Huntsman, David G.
Trent, Jeffrey M.
CLINICAL CANCER RESEARCH, 2015, 21
[3] Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4
Ramos, Pilar
Karnezis, Anthony N.
Craig, David W.
Sekulic, Aleksandar
Russell, Megan L.
Hendricks, William P. D.
Corneveaux, Jason J.
Barrett, Michael T.
Shumanskys, Karey
Yang, Yidong
Shah, Sohrab P.
Prentice, Leah M.
Marra, Marco A.
Kiefer, Jeffrey
Zismann, Victoria L.
McEachron, Troy A.
Salhia, Bodour
Prat, Jaime
D'Angelo, Emanuela
Clarke, Blaise A.
Pressey, Joseph G.
Farley, John H.
Anthony, Stephen P.
Roden, Richard B. S.
Cunliffe, Heather E.
Huntsman, David G.
Trent, Jeffrey M.
NATURE GENETICS, 2014, 46 (05) : 427 - 429
[4] Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4
Pilar Ramos
Anthony N Karnezis
David W Craig
Aleksandar Sekulic
Megan L Russell
William P D Hendricks
Jason J Corneveaux
Michael T Barrett
Karey Shumansky
Yidong Yang
Sohrab P Shah
Leah M Prentice
Marco A Marra
Jeffrey Kiefer
Victoria L Zismann
Troy A McEachron
Bodour Salhia
Jaime Prat
Emanuela D'Angelo
Blaise A Clarke
Joseph G Pressey
John H Farley
Stephen P Anthony
Richard B S Roden
Heather E Cunliffe
David G Huntsman
Jeffrey M Trent
Nature Genetics, 2014, 46 : 427 - 429
[5] Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Witkowski, Leora
Carrot-Zhang, Jian
Albrecht, Steffen
Hamel, Nancy
Tomiak, Eva
Grynspan, David
Saloustros, Emmanouil
Gilpin, Catherine
Silva-Smith, Rachel
Plourde, Francois
Rivera, Barbara
Castellsague, Ester
Wu, Mona
Fahiminiya, Somayyeh
Nadaf, Javad
Saskin, Avi
Arseneault, Madeleine
Karabakhtsian, Rouzan G.
Reilly, Elizabeth A.
Ueland, Frederick R.
Margiolaki, Anna
Pavlakis, Kitty
Castellino, Sharon M.
Lamovec, Janez
Roth, Lawrence M.
Ulbright, Thomas M.
Bender, Tracey
Longy, Michel
Berchuck, Andrew
Tischkowitz, Marc
Siebert, Reiner
Nagel, Inga
Georgoulias, Vassilis
Stewart, Colin J. r.
McCluggage, Glenn
Arseneau, Jocelyne
Clarke, Blaise A.
Riazalhosseini, Yasser
Hasselblatt, Martin
Majewski, Jacek
Foulkes, William D.
CANCER RESEARCH, 2014, 74 (19)
[6] Corrigendum: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4
Pilar Ramos
Anthony N Karnezis
David W Craig
Aleksander Sekulic
Megan L Russel
William P D Hendricks
Jason J Corneveaux
Michael T Barrett
Karey Shumansky
Yidong Yang
Sohrab P Shah
Leah M Prentice
Marco A Marra
Jeffrey Kiefer
Victoria L Zismann
Troy A McEachron
Bodour Salhia
Jaime Prat
Emanuela D'Angelo
Blaise A Clarke
Joseph G Pressey
John H Farley
Stephen P Anthony
Richard B S Roden
Heather E Cunliffe
David G Huntsman
Jeffrey M Trent
Nature Genetics, 2014, 46 (7) : 759 - 759
[7] Biallelic Somatic SMARCA4 Mutations in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)
Bailey, Shivani
Murray, Matthew J.
Witkowski, Leora
Hook, Elizabeth
Hasselblatt, Martin
Crawford, Robin
Foulkes, William D.
Tischkowitz, Marc
Nicholson, James C.
PEDIATRIC BLOOD & CANCER, 2015, 62 (04) : 728 - 730
[8] Multiple Somatic Mutations of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type: A Case Report
Aoyagi, Yoko
Kai, Kentaro
Nishida, Haruto
Aso, Saki
Kobayashi, Eiji
CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (05)
[9] Novel germline SMARCA4 mutation in Small Cell Carcinoma of the Ovary, Hypercalcemic Type
Mehta, Anurag
Diwan, Himanshi
Karki, Diksha
Bansal, Divya
Kamboj, Meenakshi
Sharma, Anila
Nathany, Shrinidhi
Mattoo, Sakshi
Kumar, Dushyant
CURRENT PROBLEMS IN CANCER: CASE REPORTS, 2022, 8
[10] Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type
Joanna Moes-Sosnowska
Lukasz Szafron
Dorota Nowakowska
Agnieszka Dansonka-Mieszkowska
Agnieszka Budzilowska
Bozena Konopka
Joanna Plisiecka-Halasa
Agnieszka Podgorska
Iwona K Rzepecka
Jolanta Kupryjanczyk
Orphanet Journal of Rare Diseases, 10

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