Genetic aspects of adrenocortical tumours and hyperplasias

Summary Adrenocortical tumours (ACT), which include adenomas, carcinomas and adrenal hyperplasia, may be associated with genetic syndromes, such as Li–Fraumeni syndrome, Beckwith–Wiedemann syndrome, multiple endocrine neoplasia type 1, familial adenomatous polyposis and Carney complex. Genetic defec...

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Bibliographic Details
Published in:Clinical endocrinology (Oxford) 2012-07, Vol.77 (1), p.1-10
Main Authors: Mazzuco, Tânia L., Durand, Julien, Chapman, Audrey, Crespigio, Jefferson, Bourdeau, Isabelle
Format: Article
Language:English
Subjects:
Adrenal Cortex Neoplasms - genetics
Adrenal Hyperplasia, Congenital - genetics
Adrenocortical Adenoma - genetics
Beckwith-Wiedemann Syndrome - genetics
Biological and medical sciences
Carney Complex - genetics
Colorectal cancer
Endocrinopathies
Fundamental and applied biological sciences. Psychology
Genes
Humans
Li-Fraumeni Syndrome - genetics
Medical sciences
Models, Biological
Multiple Endocrine Neoplasia Type 1 - genetics
Neoplastic Syndromes, Hereditary - genetics
Tumors
Vertebrates: endocrinology
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Summary:Summary Adrenocortical tumours (ACT), which include adenomas, carcinomas and adrenal hyperplasia, may be associated with genetic syndromes, such as Li–Fraumeni syndrome, Beckwith–Wiedemann 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.
ISSN:0300-0664
1365-2265
DOI:10.1111/j.1365-2265.2012.04403.x