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
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
2005
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).
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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Published date: 2005
Keywords:
BRCA1, chemoprevention, epilepsy, neuronal migration
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Local EPrints ID: 26284
URI: http://eprints.soton.ac.uk/id/eprint/26284
ISSN: 0022-2593
PURE UUID: cb6827ac-24c3-4fc6-8e50-7bb008d6471f
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Date deposited: 20 Apr 2006
Last modified: 16 Mar 2024 02:39
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Author:
D. Bunyan
Author:
S. Barker
Author:
B. Castle
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