Table 1.

Molecular Genetic Testing Used in PTEN Hamartoma Tumor Syndrome

Gene 1MethodProportion of Probands by Phenotype with a Pathogenic Variant 2 Detectable by Method
CSBRRSPLSPS
PTEN Sequence analysis of coding region 325%-80%60%50% 420% 4
Deletion/duplication analysis 5

3% 6

11% 7UnknownUnknown
Sequence analysis of promoter region 310% 7Rare 7UnknownUnknown

BRRS = Bannayan-Riley-Ruvalcaba syndrome; CS = Cowden syndrome; PLS = Proteus-like syndrome; PS = PTEN-related Proteus syndrome

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.

Data suggest that up to 50% of individuals with a Proteus-like syndrome and 20% of individuals who meet the clinical diagnostic criteria of Proteus syndrome have PTEN pathogenic variants [Yehia & Eng 2018, Yehia et al 2019].

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.

6.

Individuals with CS who have large deletions have been reported [Tan et al 2011, Yehia et al 2019].

7.

From: PTEN Hamartoma Tumor Syndrome

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