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Cited by 105Adrenal and Paraganglionic TumorsBRCA gene mutations in cancerGenetic factors in colorectal cancer

Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma

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Raymond, Victoria M., Else, Tobias, Everett, Jessica N., Long, Jessica M., Gruber, Stephen B., Hammer, Gary D.·2013·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2012-2198PMC PMC3537086
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Abstract

PURPOSE: Adrenocortical carcinoma (ACC) is a hallmark cancer in families with Li Fraumeni syndrome (LFS) caused by mutations in the TP53 gene. The prevalence of germline TP53 mutations in children diagnosed with ACC ranges from 50-97%. Although existing criteria advocate for TP53 testing in all patients with ACC regardless of age at diagnosis, the overall prevalence of germline mutations in patients diagnosed with ACC has not been well studied. PATIENTS AND METHODS: A total of 114 patients with confirmed ACC evaluated in the University of Michigan Endocrine Oncology Clinic were prospectively offered genetic counseling and TP53 genetic testing, regardless of age at diagnosis or family history. Ninety-four of the 114 patients met with a genetic counselor (82.5%), with 53 of 94 (56.4%) completing TP53 testing; 9.6% (nine of 94) declined testing. The remainder (32 of 94; 34%) expressed interest in testing but did not pursue it for various reasons. RESULTS: Four of 53 patients in this prospective, unselected series were found to have a TP53 mutation (7.5%). The prevalence of mutations in those diagnosed over age 18 was 5.8% (three of 52). There were insufficient data to estimate the prevalence in those diagnosed under age 18. None of these patients met clinical diagnostic criteria for classic LFS. Three of the families met criteria for Li Fraumeni-like syndrome; one patient met no existing clinical criteria for LFS or Li Fraumeni-like syndrome. Three of the four patients with mutations were diagnosed with ACC after age 45. CONCLUSIONS: Genetic counseling and germline testing for TP53 should be offered to all patients with ACC. Restriction on age at diagnosis or strength of the family history would fail to identify mutation carriers.

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  • The prevalence of TP53 mutations in the adult ACC population is between 3% and 7%, as determined by 2 recent studies.

    “However, the contribution of germline TP53 mutations to ACC development in adults had been not well researched until 2 recent studies determined the prevalence of TP53 mutations between 3% and 7% in the adult population (35, 36).”

    From Adrenocortical carcinoma (2014) · cites this paper as [36]

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Authors
Raymond, V. M., Else, T., Everett, J. N., Long, J. M., Gruber, S. B., & Hammer, G. D.
Affiliations
  • University of Michigan (US)
  • USC Norris Comprehensive Cancer Center (US)
Corresponding author
Raymond, Victoria M.
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2013-01-01
Volume
98
Issue
1
Pages
E119-E125
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2012-2198
PMC
PMC3537086
OpenAlex
W1971516997
Cited by
105
References
26
Citations by year
2026: 4 · 2025: 3 · 2024: 6 · 2023: 4 · 2022: 7 · 2021: 11 · 2020: 9 · 2019: 6 · 2018: 8 · 2017: 2 · 2016: 12 · 2015: 13 · 2014: 10 · 2013: 9
FWCI
10.45
Type
journal article
Language
en
Open access
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Cancer Institute (P30CA046592, P30CA014089)
  • National Institute of Diabetes and Digestive and Kidney Diseases (T32DK007245)
Topics
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords
adrenocortical carcinoma, germline TP53 mutation, Li-Fraumeni syndrome, genetic counseling, mutation prevalence, Li-Fraumeni-like syndrome, age at diagnosis, hereditary cancer predisposition
MeSH terms
Adolescent, Adrenal Cortex Neoplasms, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Gene Frequency, Genetic Counseling, Humans, Male, Middle Aged, Prospective Studies, Prevalence, Genes, p53, Germ-Line Mutation, Adrenocortical Carcinoma, Patient Selection, Genetic Predisposition to Disease, Young Adult

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