کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2791986 | 1154991 | 2006 | 16 صفحه PDF | دانلود رایگان |
Advances in the knowledge of the genetics of phaeochromocytoma have broadened our understanding about the mechanisms of tumorigenesis. Formerly it was believed that 10% of phaeochromocytomas were associated with familial cancer syndromes, but it is now recognised that up to 30% of these tumours may be familial. In particular, attention has been focused on those patients with apparently sporadic presentations where 12–24% of patients have been shown to carry germline mutations indicating hereditary disease. Consideration of genetic testing is now recommended for all apparently sporadic cases and, following the identification of a mutation-positive carrier, the offering of genetic testing to first degree relatives. There is a need for lifelong follow up of affected individuals and asymptomatic mutation-positive carriers, but validation of screening protocols has yet to be determined.
Journal: Best Practice & Research Clinical Endocrinology & Metabolism - Volume 20, Issue 3, September 2006, Pages 435–450