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Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome

Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome
We previously demonstrated that constitutional BUB1B mutations cause mosaic variegated aneuploidy, a condition characterized by constitutional aneuploidies and childhood cancer predisposition. To further investigate the role of BUB1B in cancer predisposition we performed comparative genomic hybridization analysis in an embryonal rhabdomyosarcoma from an MVA case with biallelic BUB1B mutations, revealing aneuploidies typical of sporadic E-RMS, with gain of chromosomes 3, 8, 13 and loss of chromosomes 9, 14, X. To investigate whether somatic BUB1B mutations occur in sporadic childhood cancers we screened 30 Wilms tumours, 10 acute lymphoblastic leukemias, nine rhabdomyosarcomas and 11 rhabdomyosarcoma cell lines for BUB1B mutations. We identified seven exonic and six intronic variants. Six of the exonic variants were synonymous and one resulted in a non-synonymous conservative missense alteration that was also present in a control. These data suggest that the genetic progression in rhabdomyosarcoma from MVA and non-MVA cases may be similar, but that somatic BUB1B mutations are unlikely to be common in sporadic childhood cancers known to be associated with MVA.
carcinogenesis, mitotic checkpoint genes, rhabdomyosarcoma, hybridization, time, gains, aneuploidy, chromosomes, variant, cancer, mutation, cell, amplification, bub1b, mutations, acute lymphoblastic leukemia, hbubr1, predisposition, leukemia, comparative genomic hybridization, wilms tumour, missense, mosaic variegated aneuploidy, childhood, tumours, losses
0304-3835
234-238
Hanks, Sandra
69252af9-4d09-4c6c-987e-5965a21a58c7
Coleman, Kim
14d4c43b-9ec3-4d2f-ba7f-f8521facc4ae
Summersgill, Brenda
cd1829c5-f735-46c1-a1c6-e57dd507456e
Messahel, Boo
d70211b5-fc2e-41eb-948d-7cfe7a9455fe
Williamson, Dan
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Pritchard-Jones, Kathryn
c9a0fb0b-461f-4cbd-8a11-e75ca8bccfc4
Strefford, Jon
3782b392-f080-42bf-bdca-8aa5d6ca532f
Swansbury, John
f07e9727-a743-472d-a73b-ad2c87db71e3
Plaja, Alberto
aa20497a-7ac6-4b79-b0cd-877607fb104f
Shipley, Janet
c4bd3760-d826-42ba-8321-ce78582034ac
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51
Hanks, Sandra
69252af9-4d09-4c6c-987e-5965a21a58c7
Coleman, Kim
14d4c43b-9ec3-4d2f-ba7f-f8521facc4ae
Summersgill, Brenda
cd1829c5-f735-46c1-a1c6-e57dd507456e
Messahel, Boo
d70211b5-fc2e-41eb-948d-7cfe7a9455fe
Williamson, Dan
3a86ba6f-4537-4b72-8aa2-61e06c1298e7
Pritchard-Jones, Kathryn
c9a0fb0b-461f-4cbd-8a11-e75ca8bccfc4
Strefford, Jon
3782b392-f080-42bf-bdca-8aa5d6ca532f
Swansbury, John
f07e9727-a743-472d-a73b-ad2c87db71e3
Plaja, Alberto
aa20497a-7ac6-4b79-b0cd-877607fb104f
Shipley, Janet
c4bd3760-d826-42ba-8321-ce78582034ac
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51

Hanks, Sandra, Coleman, Kim, Summersgill, Brenda, Messahel, Boo, Williamson, Dan, Pritchard-Jones, Kathryn, Strefford, Jon, Swansbury, John, Plaja, Alberto, Shipley, Janet and Rahman, Nazneen (2006) Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. Cancer Letters, 239 (2), 234-238. (doi:10.1016/j.canlet.2005.08.006).

Record type: Article

Abstract

We previously demonstrated that constitutional BUB1B mutations cause mosaic variegated aneuploidy, a condition characterized by constitutional aneuploidies and childhood cancer predisposition. To further investigate the role of BUB1B in cancer predisposition we performed comparative genomic hybridization analysis in an embryonal rhabdomyosarcoma from an MVA case with biallelic BUB1B mutations, revealing aneuploidies typical of sporadic E-RMS, with gain of chromosomes 3, 8, 13 and loss of chromosomes 9, 14, X. To investigate whether somatic BUB1B mutations occur in sporadic childhood cancers we screened 30 Wilms tumours, 10 acute lymphoblastic leukemias, nine rhabdomyosarcomas and 11 rhabdomyosarcoma cell lines for BUB1B mutations. We identified seven exonic and six intronic variants. Six of the exonic variants were synonymous and one resulted in a non-synonymous conservative missense alteration that was also present in a control. These data suggest that the genetic progression in rhabdomyosarcoma from MVA and non-MVA cases may be similar, but that somatic BUB1B mutations are unlikely to be common in sporadic childhood cancers known to be associated with MVA.

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More information

Published date: 2006
Keywords: carcinogenesis, mitotic checkpoint genes, rhabdomyosarcoma, hybridization, time, gains, aneuploidy, chromosomes, variant, cancer, mutation, cell, amplification, bub1b, mutations, acute lymphoblastic leukemia, hbubr1, predisposition, leukemia, comparative genomic hybridization, wilms tumour, missense, mosaic variegated aneuploidy, childhood, tumours, losses

Identifiers

Local EPrints ID: 62778
URI: http://eprints.soton.ac.uk/id/eprint/62778
ISSN: 0304-3835
PURE UUID: 10f25792-6305-4da2-860d-a5d3332f0793
ORCID for Jon Strefford: ORCID iD orcid.org/0000-0002-0972-2881

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Date deposited: 11 Sep 2008
Last modified: 03 Dec 2019 01:48

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Contributors

Author: Sandra Hanks
Author: Kim Coleman
Author: Brenda Summersgill
Author: Boo Messahel
Author: Dan Williamson
Author: Kathryn Pritchard-Jones
Author: Jon Strefford ORCID iD
Author: John Swansbury
Author: Alberto Plaja
Author: Janet Shipley
Author: Nazneen Rahman

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