Which genes does GeneMate® test and why?

Editorial

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

 

ORDER

 

Anna Hellquist, Genetic Counselor at iCellate Medical AB, PhD Cell and Microbiology