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- W2010579594 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." @default.
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- W2010579594 date "2012-05-13" @default.
- W2010579594 modified "2023-09-23" @default.
- W2010579594 title "Analysis of KLLN as a high-penetrance breast cancer predisposition gene" @default.
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- W2010579594 doi "https://doi.org/10.1007/s10549-012-2088-3" @default.
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