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000298346 1001_ $$aMüntnich, Lucas John$$b0
000298346 245__ $$aCancer risk in carriers of TP53 germline variants grouped into different functional categories.
000298346 260__ $$aOxford$$bOxford University Press$$c2025
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000298346 520__ $$aLi-Fraumeni syndrome is a cancer predisposition syndrome caused by pathogenic TP53 germline variants and associated with a high lifelong cancer risk. We analysed the German LFS registry that contains data on 304 individuals. Cancer phenotypes were correlated with variants grouped according to their ability to transactivate target genes in a yeast assay using a traditional (non-functional, partially-functional) and a novel (clusters A, B, C) classification of variants into different groups. Partially-functional and cluster B or C variants were enriched in patients not meeting clinical testing criteria. Time to first malignancy was longer in carriers of partially-functional variants (Hazard Ratio [HR] = 0.38; 95% CI, 0.22 to 0.66). Variants grouped within clusters B (HR = 0.45; 95% CI, 0.28 to 0.71) or C (HR = 0.34; 95% CI, 0.19 to 0.62) were associated with later cancer onset than NULL variants. These findings can be used to risk-stratify patients and inform care.
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000298346 650_7 $$2Other$$aTP53
000298346 650_7 $$2Other$$aLi-Fraumeni syndrome
000298346 650_7 $$2Other$$agenotype-phenotype correlation
000298346 7001_ $$aDutzmann, Christina M$$b1
000298346 7001_ $$aGroßhennig, Anika$$b2
000298346 7001_ $$aHärter, Valentina$$b3
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000298346 7001_ $$aMastronuzzi, Angela$$b5
000298346 7001_ $$aMontellier, Emilie$$b6
000298346 7001_ $$aNees, Juliane$$b7
000298346 7001_ $$aPalmaers, Natalie E$$b8
000298346 7001_ $$aPenkert, Judith$$b9
000298346 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b10$$udkfz
000298346 7001_ $$aRipperger, Tim$$b11
000298346 7001_ $$aSchott, Sarah$$b12
000298346 7001_ $$aSilchmüller, Farina$$b13
000298346 7001_ $$aHainaut, Pierre$$b14
000298346 7001_ $$aKratz, Christian P$$b15
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