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BRCA1 mutation and neuronal migration defect: Implications for chemoprevention

BRCA1 mutation and neuronal migration defect: Implications for chemoprevention
BRCA1 mutation and neuronal migration defect: Implications for chemoprevention
Previously we described a BRCA1 carrier with a neuronal migration defect and postulated that the brain abnormality was caused by functional nullisomy for BRCA1.1 We now describe another family in which a similar type of neuronal migration defect has occurred in one of female identical twins with a BRCA1 gene mutation (MIM 113705). One twin developed unusually early onset multiple primary breast cancers while the second twin remains cancer free over a decade later. The second twin had long standing epilepsy and focal subcortical heterotopia. We hypothesise that the neuronal migration defect is due to focal nullisomy of the BRCA1 and that the modified breast cancer risk is due to the anti-oestrogenic effects of long term anticonvulsant therapy.
BRCA1, chemoprevention, epilepsy, neuronal migration
0022-2593
Eccles, D.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e
Barker, S.
1639a15b-e369-4173-9f46-fc371f32cc3b
Castle, B.
1472bdb8-2ec6-4b06-8d62-7a1e6190ca4d
Eccles, D.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e
Barker, S.
1639a15b-e369-4173-9f46-fc371f32cc3b
Castle, B.
1472bdb8-2ec6-4b06-8d62-7a1e6190ca4d

Eccles, D., Bunyan, D., Barker, S. and Castle, B. (2005) BRCA1 mutation and neuronal migration defect: Implications for chemoprevention. Journal of Medical Genetics, 42 (e24). (doi:10.1136/jmg.2004.028084).

Record type: Article

Abstract

Previously we described a BRCA1 carrier with a neuronal migration defect and postulated that the brain abnormality was caused by functional nullisomy for BRCA1.1 We now describe another family in which a similar type of neuronal migration defect has occurred in one of female identical twins with a BRCA1 gene mutation (MIM 113705). One twin developed unusually early onset multiple primary breast cancers while the second twin remains cancer free over a decade later. The second twin had long standing epilepsy and focal subcortical heterotopia. We hypothesise that the neuronal migration defect is due to focal nullisomy of the BRCA1 and that the modified breast cancer risk is due to the anti-oestrogenic effects of long term anticonvulsant therapy.

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More information

Published date: 2005
Keywords: BRCA1, chemoprevention, epilepsy, neuronal migration

Identifiers

Local EPrints ID: 26284
URI: http://eprints.soton.ac.uk/id/eprint/26284
ISSN: 0022-2593
PURE UUID: cb6827ac-24c3-4fc6-8e50-7bb008d6471f
ORCID for D. Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 20 Apr 2006
Last modified: 16 Mar 2024 02:39

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Contributors

Author: D. Eccles ORCID iD
Author: D. Bunyan
Author: S. Barker
Author: B. Castle

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