Table 1.

Germline Molecular Genetic Testing Used in MUTYH Polyposis

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
MUTYH Sequence analysis 3~99% 4
Gene-targeted deletion/duplication analysis 5See footnote 6.
1.
2.

See Molecular Genetics for information on allelic 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 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.

A large (>4.2-kb) deletion encompassing exons 4-16 has been reported in three affected individuals from Spain, France, and Brazil, indicating a possible southern European founder variant [Rouleau et al 2011, Torrezan et al 2011, Castillejo et al 2014]. A deletion of exon 15 has also been reported [Ricci et al 2017].

From: MUTYH Polyposis

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