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

by Hendricks, William P D , Pressey, Joseph G , Trent, Jeffrey M , Marra, Marco A , Salhia, Bodour , Farley, John H , Craig, David W , D'Angelo, Emanuela , Barrett, Michael T , Cunliffe, Heather E , Yang, Yidong , Shumansky, Karey , McEachron, Troy A , Sekulic, Aleksandar , Ramos, Pilar , Karnezis, Anthony N , Anthony, Stephen P , Shah, Sohrab P , Kiefer, Jeffrey , Prentice, Leah M , Prat, Jaime , Roden, Richard B S , Russell, Megan L , Corneveaux, Jason J , Clarke, Blaise A , Huntsman, David G , Zismann, Victoria L

in 45/22 / 45/23 / 45/77 / 631/208/212/2166 / 692/308/575 / 692/699/67/1517/1709 / 692/699/67/581 / Agriculture / Animal Genetics and Genomics / Base Sequence / Biomedicine / brief-communication / Cancer / Cancer Research / Carcinogenesis / Carcinoma / Carcinoma, Small Cell - genetics / Chromatin / Chromatin Assembly and Disassembly - genetics / Chromosome Mapping / Computational Biology / DNA Helicases - genetics / DNA methylation / DNA, Complementary - genetics / Electrophoresis, Polyacrylamide Gel / Exome - genetics / Female / Gene Function / Gene Library / Genes / Genetic aspects / Human Genetics / Humans / Immunohistochemistry / Medical research / Medical schools / Molecular Sequence Data / Mutation / Mutation - genetics / Nuclear Proteins - genetics / Ovarian cancer / Ovarian Neoplasms - genetics / Ovarian tumors / Plastics industry / Sequence Analysis, DNA / Transcription Factors - genetics / Tumors / Young women

2014

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

2014

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

2014

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Journal Article

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

Hendricks, William P D,

Pressey, Joseph G,

Trent, Jeffrey M,

Marra, Marco A,

Salhia, Bodour,

Farley, John H,

Craig, David W,

D'Angelo, Emanuela,

Barrett, Michael T,

Cunliffe, Heather E,

Yang, Yidong,

Shumansky, Karey,

McEachron, Troy A,

Sekulic, Aleksandar,

Ramos, Pilar,

Karnezis, Anthony N,

Anthony, Stephen P,

Shah, Sohrab P,

Kiefer, Jeffrey,

Prentice, Leah M,

Prat, Jaime,

Roden, Richard B S,

Russell, Megan L,

Corneveaux, Jason J,

Clarke, Blaise A,

Huntsman, David G,

Zismann, Victoria L

2014

Overview

Jeffrey Trent, David Huntsman and colleagues identify the SWI/SNF chromatin-remodeling gene SMARCA4 as commonly mutated in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Their results implicate SMARCA4 as a crucial factor in the oncogenesis of SCCOHT, a rare but highly malignant cancer. 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 69% (9/13) 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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Publisher

Nature Publishing Group US,Nature Publishing Group

Subject

45/22

/ 45/23

/ 45/77

/ 631/208/212/2166

/ 692/308/575

/ 692/699/67/1517/1709

/ 692/699/67/581