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Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.
Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.
Abstract
De novo mutations are rarely reported in BRCA1 and BRCA2. We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.
BRCA1, familial breast cancer, de novo mutation
1389-9600
479-482
Edwards, Emma
098e0345-ce64-40b8-9233-b94fb80425ea
Yearwood, Catharina
898dd3df-aa3f-49bd-a107-8cfec5cfd9e6
Sillibourne, Julie
01057b20-1618-48f3-8ec5-3681ed85d5eb
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Edwards, Emma
098e0345-ce64-40b8-9233-b94fb80425ea
Yearwood, Catharina
898dd3df-aa3f-49bd-a107-8cfec5cfd9e6
Sillibourne, Julie
01057b20-1618-48f3-8ec5-3681ed85d5eb
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23

Edwards, Emma, Yearwood, Catharina, Sillibourne, Julie, Baralle, Diana and Eccles, Diana (2009) Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Familial Cancer, 8 (4), 479-482. (doi:10.1007/s10689-009-9270-8).

Record type: Article

Abstract

Abstract
De novo mutations are rarely reported in BRCA1 and BRCA2. We report a proven BRCA1 de novo mutation in a woman diagnosed with young onset bilateral breast cancer with a limited family history.

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More information

Published date: December 2009
Keywords: BRCA1, familial breast cancer, de novo mutation

Identifiers

Local EPrints ID: 69624
URI: http://eprints.soton.ac.uk/id/eprint/69624
ISSN: 1389-9600
PURE UUID: 241434a4-8478-4430-b32b-0daa0a7e1d86
ORCID for Diana Baralle: ORCID iD orcid.org/0000-0003-3217-4833
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 20 Nov 2009
Last modified: 14 Mar 2024 02:53

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Contributors

Author: Emma Edwards
Author: Catharina Yearwood
Author: Julie Sillibourne
Author: Diana Baralle ORCID iD
Author: Diana Eccles ORCID iD

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