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000181222 1001_ $$aPenkert, Judith$$b0
000181222 245__ $$aGenotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
000181222 260__ $$aLondon$$bBiomed Central$$c2022
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000181222 520__ $$aLi-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype-phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype-phenotype correlations encouraging further analyses.
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000181222 7001_ $$aStrüwe, Farina J.$$b1
000181222 7001_ $$aDutzmann, Christina M.$$b2
000181222 7001_ $$aDoergeloh, Beate B.$$b3
000181222 7001_ $$aMontellier, Emilie$$b4
000181222 7001_ $$aFreycon, Claire$$b5
000181222 7001_ $$0P:(DE-He78)90780180db1ef4845433057cef4eaeb0$$aKeymling, Myriam$$b6$$udkfz
000181222 7001_ $$0P:(DE-He78)3d04c8fee58c9ab71f62ff80d06b6fec$$aSchlemmer, Heinz-Peter$$b7$$udkfz
000181222 7001_ $$aSänger, Birte$$b8
000181222 7001_ $$aHoffmann, Beatrice$$b9
000181222 7001_ $$aGerasimov, Tanja$$b10
000181222 7001_ $$aBlattmann, Claudia$$b11
000181222 7001_ $$aFetscher, Sebastian$$b12
000181222 7001_ $$aFrühwald, Michael$$b13
000181222 7001_ $$aHettmer, Simone$$b14
000181222 7001_ $$aKordes, Uwe$$b15
000181222 7001_ $$aRidola, Vita$$b16
000181222 7001_ $$aKroiss Benninger, Sabine$$b17
000181222 7001_ $$aMastronuzzi, Angela$$b18
000181222 7001_ $$aSchott, Sarah$$b19
000181222 7001_ $$aNees, Juliane$$b20
000181222 7001_ $$aProkop, Aram$$b21
000181222 7001_ $$aRedlich, Antje$$b22
000181222 7001_ $$aSeidel, Markus G.$$b23
000181222 7001_ $$aZimmermann, Stefanie$$b24
000181222 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian$$b25$$udkfz
000181222 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b26$$udkfz
000181222 7001_ $$aHainaut, Pierre$$b27
000181222 7001_ $$aKratz, Christian P.$$b28
000181222 773__ $$0PERI:(DE-600)2429631-4$$a10.1186/s13045-022-01332-1$$gVol. 15, no. 1, p. 107$$n1$$p107$$tJournal of hematology & oncology$$v15$$x1756-8722$$y2022
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