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Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?

Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
A BRCA1 5382insC mutation was identified in a family with multiple cases of breast and ovarian cancer and eastern European ancestry. Predictive genetic testing was offered to all family members after standard genetic counselling within the regional clinical genetics service.
neuronal migration defect, brca1, focal nullisomy, breast cancer
0022-2593
Eccles, D. M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Barker, S.
1639a15b-e369-4173-9f46-fc371f32cc3b
Pilz, D. T.
6bdf499b-f0ab-4c1b-b828-e84fdd586320
Kennedy, C.
0253ede7-4342-4cf8-a60d-51107b88eaf3
Eccles, D. M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Barker, S.
1639a15b-e369-4173-9f46-fc371f32cc3b
Pilz, D. T.
6bdf499b-f0ab-4c1b-b828-e84fdd586320
Kennedy, C.
0253ede7-4342-4cf8-a60d-51107b88eaf3

Eccles, D. M., Barker, S., Pilz, D. T. and Kennedy, C. (2003) Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy? Journal of Medical Genetics, 40 (e24).

Record type: Article

Abstract

A BRCA1 5382insC mutation was identified in a family with multiple cases of breast and ovarian cancer and eastern European ancestry. Predictive genetic testing was offered to all family members after standard genetic counselling within the regional clinical genetics service.

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More information

Published date: 2003
Additional Information: Electronic Letter
Related URLs:
Keywords: neuronal migration defect, brca1, focal nullisomy, breast cancer

Identifiers

Local EPrints ID: 26286
URI: http://eprints.soton.ac.uk/id/eprint/26286
ISSN: 0022-2593
PURE UUID: 0fc3a052-cf64-42c0-96d4-9c40531d4d9a
ORCID for D. M. Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 21 Apr 2006
Last modified: 23 Jul 2022 01:34

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Contributors

Author: D. M. Eccles ORCID iD
Author: S. Barker
Author: D. T. Pilz
Author: C. Kennedy

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