GeneMate® tests 41 genes, all of which play a role in regulating how cells grow, divide, or die. When cell regulation is not working correctly, the risk of uncontrolled cell growth and division is increased. This can lead to cancer development.
There are of course more than 41 genes involved in preventing cancer but not all are suitable for genetic testing. The genes included in the GeneMate® test have the following in common:
- They are all associated with a syndrome, disease, or disorder (presented in the below table), that result in an increased risk of cancer development.
- Knowing that you are a carrier of a pathogenic variant in any of these genes has clinical value. Carrier status qualifies you for screening programs and in some cases prophylactic surgery, which can reduce the risk of serious disease.
- They are mainly inherited in an autosomal dominant way (except for MUTYH), which means that only one copy of the gene has to be mutated in order to increase the risk of disease.
The below table lists the genes included in the GeneMate® test as well as a description of which syndromes, diseases, or disorders they cause. The table also contains information regarding which cancer types are associated with each syndrome, disorder, or disease. Pathogenic variants in several of these genes are also associated with other non-cancerous symptoms not included in the table.
Associated cancer types
Age of onset
Hereditary breast–ovarian cancer syndromes (HBOC)
Breast and ovarian cancer
PTEN hamartoma tumor syndrome (PHTS)
Breast, thyroid, uterine, and colorectal cancer
Several different types of cancer
Skin melanoma and pancreatic cancer
Skin and eye melanoma and kidney cancer, among others
Familial adenomatous polyposis (FAP)
Hereditary paraganglioma-pheochromocytoma (FEO/PGL)
Paraganglioma and pheochromocytoma
Hereditary diffuse gastric cancer (HDGC)
Diffuse gastric cancer and lobular breast cancer
Li-Fraumeni syndrome (LFS)
Breast cancer, sarcoma, brain tumors, and adrenocortical carcinoma, among others
Colorectal, uterine, and ovarian cancer, among others
Primarily tumors in the parathyroid gland, pancreas, and the pituitary gland, but also other organs
Medullary thyroid cancer and pheochromocytoma
Neurofibromatosis type 1
Many different types of cancer, including breast cancer
Neurofibromatosis type 2
Benign tumors on the balance nerve
Peutz-Jegher syndrome (PJS)
Colorectal, breast, and gynecologic cancer, among others
MUTYH-associated polyposis (MAP)
Rhabdoid tumor predisposition syndrome (RTPS)
Malign rhabdoid tumor
Tuberous sclerosis complex (TSC)
Benign tumors primarily in the brain, kidneys, heart, eyes, lungs, and skin
Von Hippel-Lindau disease
Benign and malignant tumors as well as cysts in many parts of the body
Anna Hellquist, Genetic Counselor at iCellate Medical AB, PhD Cell and Microbiology