Which genes does GeneMate® test and why?
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.
Syndrome/disorder/disease | Gene | Associated cancer types | Age of onset |
Hereditary breast–ovarian cancer syndromes (HBOC) | ATM CHEK TP53 | Breast cancer | Adulthood |
PALB2 BRCA1 BRCA2 | Breast and ovarian cancer | ||
BRIP1 RAD51C RAD51D | Ovarian cancer | ||
PTEN hamartoma tumor syndrome (PHTS) | PTEN |
Breast, thyroid, uterine, and colorectal cancer
| Childhood/adulthood |
DICER1 syndrome | DICER1 | Several different types of cancer | Childhood/adulthood |
Hereditary melanoma | CDKN2A | Skin melanoma and pancreatic cancer | Adulthood |
BAP1 | Skin and eye melanoma and kidney cancer, among others | ||
Familial adenomatous polyposis (FAP) | APC | Colorectal cancer | Childhood/adulthood |
Hereditary paraganglioma-pheochromocytoma (FEO/PGL) | SDHA SDHAF2 SDHB SDHC SDHD TMEM127 MAX VHL RET NF1 | Paraganglioma and pheochromocytoma | Childhood/adulthood |
Hereditary diffuse gastric cancer (HDGC) | CDH1 | Diffuse gastric cancer and lobular breast cancer | Adulthood |
Juvenile polyposis | BMPR1A SMAD4 | Colorectal cancer | Childhood/adulthood |
Li-Fraumeni syndrome (LFS) | TP53 | Breast cancer, sarcoma, brain tumors, and adrenocortical carcinoma, among others | Childhood/adulthood |
Lynch syndrome
| EPCAM MLH1 MSH2 MSH6 PMS2 | Colorectal, uterine, and ovarian cancer, among others | Adulthood |
MEN1 | MEN1 | Primarily tumors in the parathyroid gland, pancreas, and the pituitary gland, but also other organs | Childhood/adulthood |
MEN2 syndrome | RET | Medullary thyroid cancer and pheochromocytoma | Childhood/adulthood |
Neurofibromatosis type 1 | NF1 | Many different types of cancer, including breast cancer | Childhood/adulthood |
Neurofibromatosis type 2 | NF2 | Benign tumors on the balance nerve | Childhood/adulthood |
Peutz-Jegher syndrome (PJS) | STK11 | Colorectal, breast, and gynecologic cancer, among others | Childhood/adulthood |
MUTYH-associated polyposis (MAP) | MUTYH | Colorectal cancer | Adulthood |
Retinoblastoma | RB1 | Retinoblastoma | Childhood |
Rhabdoid tumor predisposition syndrome (RTPS) | SMARCB1 | Malign rhabdoid tumor | Childhood/adulthood |
Tuberous sclerosis complex (TSC) | TSC1 TSC2 | Benign tumors primarily in the brain, kidneys, heart, eyes, lungs, and skin | Childhood |
Von Hippel-Lindau disease | VHL | Benign and malignant tumors as well as cysts in many parts of the body | Childhood/adulthood
|
Wilms' tumor | WT1 | Kidney tumor | Childhood |
Anna Hellquist, Genetic Counselor at iCellate Medical AB, PhD Cell and Microbiology