Table 1.

Molecular Genetic Testing Used in CEBPA-Associated Familial Acute Myeloid Leukemia

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
CEBPA Sequence analysis 3100% (14/14 families) 4, 5
Gene-targeted deletion/duplication analysis 6Unknown 7
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.

Sequencing of the coding region does not detect putative partial or complete gene deletions or variants in promoter regions. To date, however, no such germline CEBPA variants have been reported as causative of familial AML.

5.
6.

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

7.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

From: CEBPA-Associated Familial Acute Myeloid Leukemia (AML)

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