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Article

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 10 Mar 2009

Gonzalez Kelly D, Noltner Katie A, Buzin Carolyn H, Gu Dongqing, Wen-Fong Cindy Y, Nguyen Vu Q, Han Jennifer H, Lowstuter Katrina, Longmate Jeffrey, Sommer Steve S, Weitzel Jeffrey N

Abstract excerpt

PURPOSE: A clinical testing cohort was used to gain a broader understanding of the spectrum of tumors associated with germline p53 mutations to aid clinicians in identifying high-risk families. PATIENTS AND METHODS: Full sequencing of the coding exons (2 to 11) and associated splice junctions of the p53 gene was performed on 525 consecutive patients whose blood samples were submitted for diagnostic testing....

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Identifiers

PMID: 19204208
DOI: 10.1200/JCO.2008.16.6959

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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