Have questions? Visit https://www.reddit.com/r/SNPedia

rs79781594(G;T)

From SNPedia
Multiple Endocrine Neoplasia IIA
Is agenotype
ofrs79781594
GeneRET
Chromosome10
Position43,113,649
mentionedby
Magnitude5.1
ReputeBad
Geno Mag Summary
(A;G) 5.1 Multiple Endocrine Neoplasia IIA
(C;G) 5.1 Multiple Endocrine Neoplasia IIA
(G;G) 0 common in clinvar
(G;T) 5.1 Multiple Endocrine Neoplasia IIA

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Multiple Endocrine Neoplasia IIA (MEN2A) includes familial medullary thyroid carcinoma (FMTC) as a clinical subtype.
  • MEN2A is a hereditary cancer syndrome characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma (PHEO), parathyroid adenoma, and/or primary mild hyperparathyroidism (PHPT).
  • Prophylactic thyroidectomy is the cornerstone of management for MTC for patients with MEN2A, including FMTC.
  • For MEN2A children with a “high-risk” pathogenic variant, patients should undergo annual ultrasound and screening for increased calcitonin levels starting at 3 years of age and proceed to thyroidectomy when elevated levels are detected or at 5 years of age.
  • Biochemical surveillance for PHPT should begin at 11 years and 16 years of age for patients with high- and moderate-risk variants, respectively.

The full ClinGen Actionability report about Multiple Endocrine Neoplasia IIA (MEN2A) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.