Genomic testing for uterine and endometrial cancer – 20 genes NGS panel

Endometrial cancer is the most common form of invasive cancer of the female reproductive system, which occurs with a frequency of approximately 1 in 20 (5%) women in the general population. While the majority of endometrial cancer, and also known as uterine cancer, is not inherited, at least 3% of all cases of endometrial cancer are associated with an inherited mutation in a gene, and this is referred to as hereditary endometrial cancer.

Apart from endometrial cancer, individuals who carry a mutation associated with hereditary endometrial cancer may also be at increased risk for other types of cancer, such as colon cancer, stomach cancer, pancreatic cancer, breast cancer, ovarian cancer, thyroid cancer, and melanoma (skin cancer).

he family history is usually indicative of hereditary predisposition to endometrial cancer and although Lynch syndrome represents a significant percentage of cases, there are many other genes that may also cause increased risk of endometrial cancer.

The personal and/or family history, which is indicative of a possible hereditary predisposition to endometrial cancer, may include: early age of onset, multiple primary cancers (e.g. endometrial cancer and/or colon cancer) and a family history of affected members with related cancers. In general, cancers of the uterus and the endometrium with a hereditary predisposition typically occur before the age of 50 years.

InterGenetics has developed and offers an NGS panel for the genomic analysis of 20 genes: APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL, known to be associated with an increased risk for uterine and endometrial cancer.

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 20 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.

InterGenetics has been certified as an Ion Torrent™ Certified Service Provider for Ion AmpliSeq sequencing on Ion Proton platform