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Article

Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

Molecular cancer research : MCR - 1 Mar 2011

Monti Paola, Perfumo Chiara, Bisio Alessandra, Ciribilli Yari, Menichini Paola, Russo Debora, Umbach David M, Resnick Michael A, Inga Alberto, Fronza Gilberto

Abstract excerpt

Germline TP53 mutations result in cancer proneness syndromes known as Li-Fraumeni, Li-Fraumeni-like, and nonsyndromic predisposition with or without family history. To explore genotype/phenotype associations, we previously adopted a functional classification of all germline TP53 mutant alleles based on transactivation. Severe deficiency (SD) alleles were associated with more severe cancer proneness syndromes, and...

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Identifiers

PMID: 21343334
DOI: 10.1158/1541-7786.MCR-10-0496
PMCID: PMC3077904

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