Clinical Diagnostics

Cancer Genome


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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.

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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
Kidney
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.

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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.

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

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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.

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Prenatal Genome


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Non-Invasive Prenatal Screening (NIPS)

NIPS is the test that screens for aneuploidy of chromosomes in a fetus using its DNA (cfDNA). The test is performed on Down syndrome, Edwards syndrome and Patau syndrome, the most typical kinds of aneuploidy, and aneuploidy of gender chromosomes.

NIPS is safer and allows checking for abnormalities of the fetus earlier than the existing invasive amniotic fluid testing. Pregnant women aged 35 or older or those with a family history of fetal abnormalities should take the test because the risk of chromosome aneuploidy is very high.

Rare Disease Genome


There are more than 8,000 known rare diseases. Among them, 80% are hereditary diseases caused by gene mutation. Even though the prevalence rate of each disease is very low, the risk is rather high around the world because there are so many types and symptoms of these diseases.

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(Source : raredisease.org January 2016)

  • 30% of patients with rare diseases die before they reach the age of 5
  • 50% of patients with rare diseases are children
  • 80% of patients with rare diseases are willing to actively participate in studies
  • On average, patients with rare diseases receive incorrect diagnoses about six times, and the correct diagnosis is usually made after ten years of evaluations.
  • In the United States, lifetime medical costs for one patient with a rare disease reach about 5 million dollars.

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Rare Genetic Disease Screening

Although many rare diseases are known, different degrees of symptoms can be shown for the same disease and there are multiple diseases with similar symptoms. Thus, it is still very difficult to receive a correct diagnosis and treatment. Rare genetic disease screening is for patients with obscure symptoms that need a correct diagnosis and testing to establish a guideline for appropriate therapy.

New personalized drugs are being developed, although there are not many drugs for rare genetic diseases. Thus, the need for a correct diagnosis is rising.

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Carrier Screening

Carrier screening is a test to aid healthy family planning by predicting the genetic risk to future children by analyzing the parents’ genomes.

In the case of autosomal recessive diseases, if the parents are carriers who have genetic risk factors even though they appear normal, their children have a 25% possibility of being born with a hereditary genetic disease.

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NBS (Newborn Screening)

NBS is a genetic disease screening test performed on newborns within 24 – 48 hours after birth. The purpose of the test is to prevent the risk of children’s hereditary genetic diseases by testing for metabolic disorders, which are dangerous diseases that occur within 1 year of birth but can be treated when detected early.