Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients

Thompson, Ella R., Boyle, Samantha E., Johnson, Julie, Ryland, Georgina L., Sawyer, Sarah, Choong, David Y.H., kConFab, Chenevix-Trench, Georgia, Trainer, Alison H., Lindeman, Geoffrey J., Mitchell, Gillian, James, Paul A. and Campbell, Ian G. (2012) Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients. Human Mutation, 33 1: 95-99. doi:10.1002/humu.21625

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Author Thompson, Ella R.
Boyle, Samantha E.
Johnson, Julie
Ryland, Georgina L.
Sawyer, Sarah
Choong, David Y.H.
kConFab
Chenevix-Trench, Georgia
Trainer, Alison H.
Lindeman, Geoffrey J.
Mitchell, Gillian
James, Paul A.
Campbell, Ian G.
Title Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients
Formatted title
Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 2012-01
Year available 2011
Sub-type Article (original research)
DOI 10.1002/humu.21625
Volume 33
Issue 1
Start page 95
End page 99
Total pages 5
Place of publication Hoboken, NJ, U.S.A.
Publisher John Wiley & Sons, Inc.
Collection year 2012
Language eng
Formatted abstract
There is strong evidence that overtly inactivating mutations in RAD51C predispose to hereditary breast and ovarian cancer but the prevalence of such mutations, and whether they are associated with a particular clinical phenotype, remains unclear. Resolving these questions has important implications for the implementation of RAD51C into routine clinical genetic testing. Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the first study of unselected patients diagnosed with ovarian cancer. Our data confirm a consistent but low frequency (2/335 families) of inactivating RAD51C mutations among families with a history of both breast and ovarian cancer and an absence of mutations among breast cancer only families (0/1,053 families). Our data also provide support for the designation of the missense variant p.Gly264Ser as a moderate penetrance allele.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article first published online: 4 NOV 2011

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 26 times in Thomson Reuters Web of Science Article | Citations
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Created: Mon, 21 Nov 2011, 14:40:11 EST by Matthew Lamb on behalf of School of Medicine