Open AccessTP53Germline Mutations in Adult Patients with Adrenocortical Carcinoma
Author(s) -
Leonie Herrmann,
Britta Heinze,
Martin Faßnacht,
Holger S. Willenberg,
Marcus Quinkler,
Nicole Reisch,
Martina Zink,
Bruno Allolio,
Stefanie Hahner
Publication year - 2011
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2011-1982
Subject(s) - adrenocortical carcinoma , germline , germline mutation , cancer research , medicine , oncology , mutation , biology , genetics , gene
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with germline mutations in TP53. According to the Chompret criteria for LFS, any patient with adrenocortical cancer (ACC), irrespective of age and family history, is at high risk for a TP53 germline mutation. However, whereas such mutations have been detected with high frequency in childhood ACC, a large cohort of adult patients with ACC has never been investigated for TP53 germline mutations.
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