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Analysis of KLLN as a high-penetrance breast cancer predisposition gene

Analysis of KLLN as a high-penetrance breast cancer predisposition gene
Analysis of KLLN as a high-penetrance breast cancer predisposition gene
KLLN is a p53 target gene with DNA binding function and represents a highly plausible candidate breast cancer predisposition gene. We screened for predisposing variants in 860 high-risk breast cancer families using high resolution melt analysis. A germline c.339_340delAG variant predicted to cause premature termination of the protein after 57 alternative amino acid residues was identified in 3/860 families who tested negative for BRCA1 and BRCA2 mutations and in 1/84 sporadic breast cancer cases. However, the variant was also detected in 2/182 families with known BRCA1 or BRCA2 mutations and in 2/464 non-cancer controls. Furthermore, loss of the mutant allele was detected in 2/2 breast tumors. Our data suggest that pathogenic mutations in KLLN are rare in breast cancer families and the c.339_340delAG variant does not represent a high-penetrance breast cancer risk allele.
0167-6806
543-547
Thompson, Ella R.
d3929bbe-f75f-46fb-8a59-bd07d65dcf3e
Gorringe, Kylie L.
85748f4c-361d-4f3b-b6aa-18992960898b
Choong, David Y.H.
cc08344b-077d-46fd-986a-3365becd533a
Eccles, Diana M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Mitchell, Gillian
5091b5ee-dac1-4a68-8b4f-9ec2dbc198e4
Campbell, Ian G.
681789cb-d416-4722-9ba8-449c7af96673
Thompson, Ella R.
d3929bbe-f75f-46fb-8a59-bd07d65dcf3e
Gorringe, Kylie L.
85748f4c-361d-4f3b-b6aa-18992960898b
Choong, David Y.H.
cc08344b-077d-46fd-986a-3365becd533a
Eccles, Diana M.
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Mitchell, Gillian
5091b5ee-dac1-4a68-8b4f-9ec2dbc198e4
Campbell, Ian G.
681789cb-d416-4722-9ba8-449c7af96673

Thompson, Ella R., Gorringe, Kylie L., Choong, David Y.H., Eccles, Diana M., Mitchell, Gillian and Campbell, Ian G. (2012) Analysis of KLLN as a high-penetrance breast cancer predisposition gene. Breast Cancer Research and Treatment, 134 (2), 543-547. (doi:10.1007/s10549-012-2088-3).

Record type: Article

Abstract

KLLN is a p53 target gene with DNA binding function and represents a highly plausible candidate breast cancer predisposition gene. We screened for predisposing variants in 860 high-risk breast cancer families using high resolution melt analysis. A germline c.339_340delAG variant predicted to cause premature termination of the protein after 57 alternative amino acid residues was identified in 3/860 families who tested negative for BRCA1 and BRCA2 mutations and in 1/84 sporadic breast cancer cases. However, the variant was also detected in 2/182 families with known BRCA1 or BRCA2 mutations and in 2/464 non-cancer controls. Furthermore, loss of the mutant allele was detected in 2/2 breast tumors. Our data suggest that pathogenic mutations in KLLN are rare in breast cancer families and the c.339_340delAG variant does not represent a high-penetrance breast cancer risk allele.

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Published date: July 2012
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 352325
URI: https://eprints.soton.ac.uk/id/eprint/352325
ISSN: 0167-6806
PURE UUID: 24d1f5fb-25cd-466b-bd71-f2d2409e7935

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Date deposited: 14 May 2013 11:23
Last modified: 16 Jul 2019 21:34

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Contributors

Author: Ella R. Thompson
Author: Kylie L. Gorringe
Author: David Y.H. Choong
Author: Diana M. Eccles
Author: Gillian Mitchell
Author: Ian G. Campbell

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