Table 1.

Molecular Genetic Testing Used in Multiple Endocrine Neoplasia Type 1

Gene 1MethodProportion of Probands with a Germline Pathogenic Variant 2 Detectable by Method
MEN1 Sequence analysis 3Familial: 80%-90% 4
Simplex: 65% 4
Gene-targeted deletion/duplication analysis 51%-4% 4

familial = a proband meeting the diagnostic criteria of MEN1 plus a minimum of one first-degree relative with at least one of these tumors; simplex = a single occurrence of MEN1 in a family

1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.
5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

From: Multiple Endocrine Neoplasia Type 1

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