Table 1.

Summary of Molecular Genetic Testing Used in Hereditary Diffuse Gastric Cancer

Gene 1Test MethodProportion of Probands with a Pathogenic Variant Detectable by This Method
CDH1Sequence analysis 230%-50% 3
Deletion/duplication analysis 44% 5, 6
Unknown 7NANA
1.

See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene.

2.

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

3.
4.

Testing that identifies exonic or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

5.

All persons with HDGC

6.

6.5% of individuals with HDGC who do not have a pathogenic variant identified on sequence analysis [Oliveira et al 2009]

7.

Since between 50%-70% of families with HDGC reported to date have no identifiable CDH1 germline pathogenic variant, it is likely that some of these families may have pathogenic variants in other unidentified HDGC-susceptibility genes. Although candidate genes have been analyzed, no pathogenic variants have been identified.

From: Hereditary Diffuse Gastric Cancer

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