List of diseases covered by
Polyposis Syndromes NGS panel
Gene | Condition |
APC | Adenomatous polyposis coli; Colorectal cancer, somatic; Desmoid disease, hereditary; Gardner syndrome; Gastric cancer, somatic; Hepatoblastoma, somatic |
BMPR1A | Juvenile polyposis syndrome, infantile form; Polyposis syndrome, hereditary mixed, 2 |
MUTYH | Adenomas, multiple colorectal; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; Gastric cancer, somatic |
PTEN | Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome; Endometrial carcinoma, somatic; Malignant melanoma, somatic; Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic; VATER association with macrocephaly and ventriculomegaly; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 |
SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal |
STK11 | Pancreatic cancer; Peutz-Jeghers syndrome; Testicular tumor, somatic |