Journal
CLINICAL ENDOCRINOLOGY
Volume 77, Issue 1, Pages 1-10Publisher
WILEY
DOI: 10.1111/j.1365-2265.2012.04403.x
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Funding
- Fonds de la recherche en sante du Quebec [FRSQ-15907]
- Cancer Research Society
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Adrenocortical tumours (ACT), which include adenomas, carcinomas and adrenal hyperplasia, may be associated with genetic syndromes, such as LiFraumeni syndrome, BeckwithWiedemann syndrome, multiple endocrine neoplasia type 1, familial adenomatous polyposis and Carney complex. Genetic defects have been found to be responsible for the disease in most of these syndromes, allowing genetic counselling to affected patients and family members. Here, we summarize the clinical criteria of these hereditary syndromes and briefly describe the genetic alterations related to them. In addition, we discuss the involvement of various genetic defects in the development of sporadic adrenocortical tumours.
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