Pancreatic cancer is estimated to have a familial clustering in ~ 5-10% of cases and people with a family history have a higher risk of developing pancreatic cancer, depending on the number of affected family members. Individuals at an increased risk for pancreatic cancer include those with two or more first degree relatives with pancreatic cancer or three or more other family members with pancreatic cancer.
People with hereditary forms of pancreatic cancer often develop the disease at an earlier age than patients with sporadic pancreatic cancer. Although no single gene is able to explain the majority of cases of familial pancreatic cancer, individuals with familial pancreatic cancer may have mutations in genes associated with other types of cancer of other cancer syndromes. These syndromes include the possible occurrence of pancreatic cancer as a clinical feature of familial polyposis (FAP), Li-Fraumeni syndrome, Lynch syndrome, predisposition to melanoma or Peutz-Jeghers syndrome. Also, carriers (heterozygotes) of pathogenic mutations in genes causing ataxia telangiectasia and Fanconi anemia have also been found to have an increased risk of pancreatic cancer.
nterGenetics has developed and offers an NGS panel for the genomic analysis of 12 genes (APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53) known to be associated with genetic diseases which often include the development of pancreatic cancer. The mode of inheritance is typically autosomal dominant, but it also exhibits genetic anticipation.
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 12 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.