GYNplus is a next generation sequencing panel that simultaneously analyzes 13 high risk and moderate risk ovarian and uterine cancer susceptibility genes, all with published management guidelines. All genes are are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. In addition, sequencing of the promoter region is performed for the following genes: PTEN (c.-1300 to c.-745), MLH1 (c.-337 to c.-194), and MSH2 (c.-318 to c.-65). The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by PCR and agarose gel electrophoresis. The BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) is detected by NGS and confirmed by PCR and agarose gel electrophoresis. Testing to be considered Uterine cancer patients who are <50 years of age or with abnormal MSI/IHC, Ovarian cancer at any age, Multiple primary cancers in one person (e.g. uterine and breast or thyroid cancer) and Cancer histories that are suspicious for both hereditary breast ovarian cancer and Lynch syndrome. GYNplus can detect >99.9% of described mutations in the included genes, when present.
Breast Cancer, Ovarian Cancer, Thyroid Gland Carcinoma, Uterine Cancer
BRCA1 (Breast cancer 1, early onset), BRCA2 (Breast cancer 2, early onset), BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1), EPCAM (Epithelial cell adhesion molecule), MLH1 (MutL homolog 1), MSH2 (MutS Homolog 2)
See More ...
Next-Generation Sequencing (NGS)