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| 001 | 298346 | ||
| 005 | 20250819095214.0 | ||
| 024 | 7 | _ | |a 10.1093/jncics/pkaf008 |2 doi |
| 024 | 7 | _ | |a pmid:39873732 |2 pmid |
| 024 | 7 | _ | |a altmetric:173631655 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2025-00250 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Müntnich, Lucas John |b 0 |
| 245 | _ | _ | |a Cancer risk in carriers of TP53 germline variants grouped into different functional categories. |
| 260 | _ | _ | |a Oxford |c 2025 |b Oxford University Press |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1755589910_6402 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a 2025 Jan 3;9(1):pkaf008 |
| 520 | _ | _ | |a Li-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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| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de |
| 650 | _ | 7 | |a TP53 |2 Other |
| 650 | _ | 7 | |a Li-Fraumeni syndrome |2 Other |
| 650 | _ | 7 | |a genotype-phenotype correlation |2 Other |
| 700 | 1 | _ | |a Dutzmann, Christina M |b 1 |
| 700 | 1 | _ | |a Großhennig, Anika |b 2 |
| 700 | 1 | _ | |a Härter, Valentina |b 3 |
| 700 | 1 | _ | |a Keymling, Myriam |0 P:(DE-He78)90780180db1ef4845433057cef4eaeb0 |b 4 |u dkfz |
| 700 | 1 | _ | |a Mastronuzzi, Angela |b 5 |
| 700 | 1 | _ | |a Montellier, Emilie |b 6 |
| 700 | 1 | _ | |a Nees, Juliane |b 7 |
| 700 | 1 | _ | |a Palmaers, Natalie E |b 8 |
| 700 | 1 | _ | |a Penkert, Judith |b 9 |
| 700 | 1 | _ | |a Pfister, Stefan M |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 10 |u dkfz |
| 700 | 1 | _ | |a Ripperger, Tim |b 11 |
| 700 | 1 | _ | |a Schott, Sarah |b 12 |
| 700 | 1 | _ | |a Silchmüller, Farina |b 13 |
| 700 | 1 | _ | |a Hainaut, Pierre |b 14 |
| 700 | 1 | _ | |a Kratz, Christian P |b 15 |
| 773 | _ | _ | |a 10.1093/jncics/pkaf008 |g p. pkaf008 |0 PERI:(DE-600)2975772-1 |n 1 |p pkaf008 |t JNCI cancer spectrum |v 9 |y 2025 |x 2515-5091 |
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