Hereditary gastrointestinal cancers are tumors involving the digestive system and include, among others, tumors of the stomach, liver and colon. This genomic test analyzes genes known to be involved in multiple autosomal dominant syndromes and cancer predispositions, such as Lynch syndrome, Hereditary Diffuse Gastric Cancer (HDGC), stromal tumors of the gastrointestinal tract (GIST), Juvenile Polyposis Syndrome (JPS), PTEN Hamartoma Tumor syndrome – PHTS (includes Cowden Syndrome-CS, Bannayan-Ruvalcaba-Riley Syndrome (BRRS) and Proteus Syndrome), Peutz-Jeghers syndrome (PJS), Familial Adenomatous Polyposis (FAP) and cancers associated with the CHEK2 gene and Li-Fraumeni syndrome.
There are also autosomal recessive cancer syndromes which have been associated with increased risk for cancers of the gastrointestinal tract, even when only one allele/copy of the gene carries a mutation (heterozygotes), such as polyps associated with the MUTYH gene (MAP), ataxia telangiectasia (ATS), Bloom Syndrome and Mosaic Variegated Aneuploidy (MVA).
Testing includes the following cancers and cancer syndromes:
|Lynch Syndrome I
|Lynch Syndrome II
|Lynch Syndrome IV
|Lynch Syndrome V
|Hereditary Nonpolyposis Colorectal Cancer Type 8
|Juvenile Polyposis Syndrome
|Familial Adenomatous Polyposis
|MUTYH Associated Polyposis
|Hereditary Diffuse Gastric Cancer
|Gastrointestinal Stromal Tumors
|Mosaic Variegated Aneuploidy Syndrome
|Li-Fraumeni Syndrome 2
|Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
InterGenetics has developed and offers an NGS panel for the genomic analysis of 21 genes (APC, ATM, BLM, BMPR1A, BUB1B, CDH1, CHEK2, EPCAM, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SDHB, SDHC, SMAD4, STK11, TP53), mutations in which are associated with various gastrointestinal cancers.
We perform DNA sequence analysis, via Next Generation Sequencing (NGS) on a Genome Analyzer – Ion Proton platform, of all exons and intron-exon junctions/splice sites of the 21 genes, allowing us to detect >98% of all pathogenic mutations of the genes through the use of specially developed bioinformatics tools, thus providing in a single step an increased clinical sensitivity and performance compared to single gene testing.
Where possible and/or necessary, we carry out additional MLPA analysis in order to detect deletions/duplications of the genes (please consult the final test report).
The test is highly sensitive and complex, so it is necessary that the results are assessed by a specialized team of clinical and molecular geneticists, in order to ensure safe and reliable testing.
Proper clinical genetic assessment and genetic counseling, both before and after testing, is essential in order to determine the optimum testing strategy and also to communicate properly the concepts of pathological and normal.