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Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

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Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. / Schneppenheim, Reinhard; Frühwald, Michael C; Gesk, Stefan; Hasselblatt, Martin; Jeibmann, Astrid; Kordes, Uwe; Kreuz, Markus; Leuschner, Ivo; Subero, Martin; Obser, Tobias; Oyen, Florian; Oyen, Florian; Vater, Inga; Siebert, Reiner.

In: AM J HUM GENET, Vol. 86, No. 2, 2, 2010, p. 279-284.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schneppenheim, R, Frühwald, MC, Gesk, S, Hasselblatt, M, Jeibmann, A, Kordes, U, Kreuz, M, Leuschner, I, Subero, M, Obser, T, Oyen, F, Oyen, F, Vater, I & Siebert, R 2010, 'Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.', AM J HUM GENET, vol. 86, no. 2, 2, pp. 279-284. <http://www.ncbi.nlm.nih.gov/pubmed/20137775?dopt=Citation>

APA

Schneppenheim, R., Frühwald, M. C., Gesk, S., Hasselblatt, M., Jeibmann, A., Kordes, U., Kreuz, M., Leuschner, I., Subero, M., Obser, T., Oyen, F., Oyen, F., Vater, I., & Siebert, R. (2010). Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. AM J HUM GENET, 86(2), 279-284. [2]. http://www.ncbi.nlm.nih.gov/pubmed/20137775?dopt=Citation

Vancouver

Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U et al. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. AM J HUM GENET. 2010;86(2):279-284. 2.

Bibtex

@article{c38f31d0e542448f9ba1640eb224048b,
title = "Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.",
abstract = "Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor predisposition syndrome (RTPS), have been linked to heterozygous SMARCB1 germline mutations. We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. SMARCA4 is thus a second member of the SWI/SNF complex involved in cancer predisposition. Its general involvement in other tumor entities remains to be established.",
author = "Reinhard Schneppenheim and Fr{\"u}hwald, {Michael C} and Stefan Gesk and Martin Hasselblatt and Astrid Jeibmann and Uwe Kordes and Markus Kreuz and Ivo Leuschner and Martin Subero and Tobias Obser and Florian Oyen and Florian Oyen and Inga Vater and Reiner Siebert",
year = "2010",
language = "Deutsch",
volume = "86",
pages = "279--284",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "2",

}

RIS

TY - JOUR

T1 - Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

AU - Schneppenheim, Reinhard

AU - Frühwald, Michael C

AU - Gesk, Stefan

AU - Hasselblatt, Martin

AU - Jeibmann, Astrid

AU - Kordes, Uwe

AU - Kreuz, Markus

AU - Leuschner, Ivo

AU - Subero, Martin

AU - Obser, Tobias

AU - Oyen, Florian

AU - Oyen, Florian

AU - Vater, Inga

AU - Siebert, Reiner

PY - 2010

Y1 - 2010

N2 - Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor predisposition syndrome (RTPS), have been linked to heterozygous SMARCB1 germline mutations. We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. SMARCA4 is thus a second member of the SWI/SNF complex involved in cancer predisposition. Its general involvement in other tumor entities remains to be established.

AB - Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor predisposition syndrome (RTPS), have been linked to heterozygous SMARCB1 germline mutations. We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. SMARCA4 is thus a second member of the SWI/SNF complex involved in cancer predisposition. Its general involvement in other tumor entities remains to be established.

M3 - SCORING: Zeitschriftenaufsatz

VL - 86

SP - 279

EP - 284

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 2

M1 - 2

ER -