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

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).

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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Contributors

Author: Diana M. Eccles

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