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Article

Penetrance of adrenocortical tumours associated with the germline <i>TP53</i> R337H mutation

20 Jul 2005

Abstract excerpt

BACKGROUND: An inherited germline P53 mutation has been identified in cases of childhood adrenocortical carcinoma (ACT), a neoplasm with a high incidence in southern Brazil. The penetrance of ACT in carriers of the point mutation, which encodes an arginine-to-histidine substitution at codon 337 of TP53 (R337H), has not been determined. OBJECTIVE: To investigate the penetrance of childhood ACT in carriers of the...

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Identifiers

PMID: 16033918
DOI: 10.1136/jmg.2004.030551

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