TP53 and CDKN1A mutation analysis in families with Li –Fraumeni and Li–Fraumeni like syndromes

In this study, we searched for mutations inTP53 in 39 probands from families with criteria for LFS/LFL. We also searched for mutations in the gene encoding the main mediator of p53 in cell cycle arrest,CDKN1A/p21, in all patients with no mutations inTP53. Eight probands carried germline disease-causing mutations inTP53: six missense mutations and two partial gene deletions. No mutations inCDKN1A coding region were detected.TP53 partial deletions in our cohort represented 25  % (2/8) of the mutations found, a much higher frequency than usually reported, emphasizing the need to search forTP53 rearrangements in patients with LFS/LFL phenotypes. Two benign tumors were detected in twoTP53 mutation carriers: an adrenocortical adenoma and a neurofibroma, which raises a question about the possible implication ofTP53 mutations on the development of such lesions.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research