Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer
Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer
Mutations in RAD51D have been associated with an increased risk of hereditary ovarian cancer and although they have been observed in the context of breast and ovarian cancer families, the association with breast cancer is unclear. The aim of this current study was to validate the reported association of RAD51D with ovarian cancer and assess for an association with breast cancer. We screened for RAD51D mutations in BRCA1/2 mutation-negative index cases from 1,060 familial breast and/or ovarian cancer families (including 741 affected by breast cancer only) and in 245 unselected ovarian cancer cases. Exons containing novel non-synonymous variants were screened in 466 controls. Two overtly deleterious RAD51D mutations were identified among the unselected ovarian cancers cases (0.82%) but none were detected among the 1,060 families. Our data provide additional evidence that RAD51D mutations are enriched among ovarian cancer patients, but are extremely rare among familial breast cancer patients.
e54772
Ellis, Nathan A.
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Thompson, Ella R.
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Rowley, Simone M.
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Sawyer, Sarah
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kConFab, None
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Eccles, Diana M.
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Trainer, Alison H.
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Mitchell, Gillian
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James, Paul A.
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Campbell, Ian G.
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25 January 2013
Ellis, Nathan A.
7ecabc46-34d5-4873-acba-8ad0a9a3a6eb
Thompson, Ella R.
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Rowley, Simone M.
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Sawyer, Sarah
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kConFab, None
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Eccles, Diana M.
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Trainer, Alison H.
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Mitchell, Gillian
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James, Paul A.
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Campbell, Ian G.
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Ellis, Nathan A., Thompson, Ella R., Rowley, Simone M., Sawyer, Sarah, kConFab, None, Eccles, Diana M., Trainer, Alison H., Mitchell, Gillian, James, Paul A. and Campbell, Ian G.
(2013)
Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.
PLoS ONE, 8 (1), .
(doi:10.1371/journal.pone.0054772).
Abstract
Mutations in RAD51D have been associated with an increased risk of hereditary ovarian cancer and although they have been observed in the context of breast and ovarian cancer families, the association with breast cancer is unclear. The aim of this current study was to validate the reported association of RAD51D with ovarian cancer and assess for an association with breast cancer. We screened for RAD51D mutations in BRCA1/2 mutation-negative index cases from 1,060 familial breast and/or ovarian cancer families (including 741 affected by breast cancer only) and in 245 unselected ovarian cancer cases. Exons containing novel non-synonymous variants were screened in 466 controls. Two overtly deleterious RAD51D mutations were identified among the unselected ovarian cancers cases (0.82%) but none were detected among the 1,060 families. Our data provide additional evidence that RAD51D mutations are enriched among ovarian cancer patients, but are extremely rare among familial breast cancer patients.
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Published date: 25 January 2013
Organisations:
Cancer Sciences
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Local EPrints ID: 352316
URI: http://eprints.soton.ac.uk/id/eprint/352316
ISSN: 1932-6203
PURE UUID: b4096221-7f92-497d-87c1-5e56b9ee043f
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Date deposited: 09 May 2013 13:26
Last modified: 15 Mar 2024 02:40
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Contributors
Author:
Nathan A. Ellis
Author:
Ella R. Thompson
Author:
Simone M. Rowley
Author:
Sarah Sawyer
Author:
None kConFab
Author:
Alison H. Trainer
Author:
Gillian Mitchell
Author:
Paul A. James
Author:
Ian G. Campbell
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