Clinical Diagnostics

Cancer Risk Prediction Test

Cancers occur due to various causes, but some cancers are caused by genetic mutations of specific inherited genes. People who have such cancer-related mutations have far more risk of cancer than others. Hereditary cancers are caused by gene abnormalities inherited from parents, and the incidence of cancer in the same family is high. Thus, early detection and identification of the exact cause through gene diagnosis is required.

The most commonly known hereditary cancers are breast cancer, ovarian cancer, and colon cancer. For incidence of breast cancer, 5% - 10% is known to be genetically caused, and about more than half are caused by abnormalities in genes called BRCA1 and BRCA2. When there is a mutation in the BRCA1 gene, the risk increases up to 87% after age 70 compared to when there is no variation. Moreover, various genes including MLH1 are found to be the main cause of colon/rectal cancer. With the mutation, the incidence of cancer increases greatly.

Hereditary Cancer Panel

The heredity cancer panel diagnoses the hereditary risk of cancer by analyzing the causative gene related to hereditary cancer. Mutations of a total of 16 genes including BRCA1/2 genes, and genes related to Lynch syndrome, which is the main cause of colon cancer, are analyzed.

Gene List Target Description (related cancer type)
APC
MUTYH
Large Intestine Germline mutations associated with familial adenomatous polyposis (FAP)
BRCA1
BRCA2
Breast
Ovary
Related to breast/ovarian cancer
CDH1 Stomach
Large Intestine
Responsible for cell-to-cell adhesion llmplicated in cancer progression and metastasis
EPCAM
PMS2
MLH1
MSH2
MSH6
Large Intestine
Rectum
Related to the mismatch repair of DNA Lynch syndrome
(hereditary non-polyposis colorectal cancer, HNPCC)
MEN1 Endocrine System Multiple endocrine neoplasia type 1 (MEN-1 syndrome)
Familial neoplasia affecting the network of hormone-producing glands
PTEN Thyroid
Breast
Cowden syndrome Tumor - suppressor gene
RB1 Eye Retinoblastoma
RET Endocrine System
Thyroid
Proto-oncogene Multiple endocrine neoplasia type 2
Medullary thyroid carcinoma
TP53 Breast
Bone
Etc.
Li - Fraumeni syndrome
VHL Eye
Kidny
Central Nervous System
Tumor - suppressor gene
von Hippel - Lindau Syndrome

BRCA1/2 Gene Test

All areas of the BRCA1/2 gene, which is the representative cause of hereditary breast cancer, are analyzed to diagnose a person’s risk of breast cancer. Mutations in the BRCA 1/2 gene greatly increase the risk of breast cancer.

Cancer Cause Discovery Test

Cancer cause discovery test tracks the cause of cancer and provides important information for personalized cancer treatment by analyzing various mutations of major genes, which are involved in the occurrence of cancer, using DNA extracted from the tumor samples of a patient. Until now, cancers were classified in a histopathological manner, but recently, gene analysis is performed on cancer tissue and cancers are divided into detailed items according to the gene mutation, which contributes to improved response (about 75% of patients exhibit different effects when the same anticancer drug is prescribed) and provides personalized treatment for cancer patients while minimizing adverse effects.

Source: Pao W et al. New driver mutations in non-small-cell lung cancer Lancet Oncol. 2011 Feb; 12(2): 175-80.

Regular Cancer Monitoring Test

When cancer occurs in the body, there are NDA fragments detached from cancer cells in blood. This is called ctDNA (circulating tumor DNA). When ctDNA is checked regularly, cancer cells can be detected early and prompt measures taken.

Unlike existing biopsies, this test can be performed by merely collecting blood, which makes regular checkups more efficient. However, the test is not widely given because the levels of ctDNA are different by type of cancer and individual, and detection is very difficult. Macrogen is expanding the service by continuously making technical improvements.

Service inquiry

※ The cancer genome test service can only be provided for research purposes.