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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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RET variant implications for first- and second-degree relatives

RET variant implications for first- and second-degree relatives
This algorithm applies to families in which a pathogenic variant in RET has been identified in one individual. All relatives who carry the variant are at risk for the complications of MEN2. Any individual with clinical features of MEN2 who tests negative for an RET gene variant should be evaluated by a genetics expert or disease specialist to determine the appropriate evaluation, which may include additional testing for RET variants, testing for other disease genes, or additional clinical evaluation. Refer to UpToDate topics on MEN2 for manifestations of MEN2 and management recommendations.

MEN2: multiple endocrine neoplasia type 2.

* If any of these additional individuals test positive for the pathogenic variant, follow the same testing algorithm for their first-degree relatives.

¶ Testing is not required for the parent's parents and the parent's siblings.

Δ MEN2 is caused by a de novo pathogenic variant in individuals with MEN2A and MEN2B in 5 and 50% of patients, respectively. Refer to UpToDate topics on MEN2.
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