Genome Screen Cancer

• Test Code: ON090

Test Description

Hereditary cancer arises from gene abnormalities and comprises 5-10% of all cancers. Early genetic testing is crucial as hereditary cancers can develop earlier and affect multiple organs. Cancer Genome Screen uses NGS to analyze 35 genes associated with various cancers, enabling prevention, early diagnosis, and improved treatment outcomes. This test provides personalized information based on gene analysis and existing research to assist individuals in managing their health.

Ordering information

• Turnaround time : 12 days
• Specimen : EDTA WB 3ml
• Method : NGS
• Required documents : Requisition form, Informed consent form

Assay information

• Test Disease : 24 major cancers (Screen 35 genes with high genetic penetration of 24 major cancers at once)
  • Hereditary breast cancer-ovarian cancer syndrome , Li-Fraumenisyndrome (breast cancer, brain tumor, adrenal cortical cancer, leukemia), Poitz-Zeros syndrome (colorectal cancer, gastric cancer), Lynch syndrome (colorectal cancer, uterus) Intimal cancer, gastric cancer, ovarian cancer, etc.), polyposis syndrome (colorectal cancer familial adenomatous polyposis, colon cancer MUTYH-associated polyposis, colon cancer/small intestine cancer/pancreatic cancer juvenile polyp syndrome), and more

Result

Limitations

• The disease relevance of sequence variation according to 2015 ACMG/AMP guidelines is analyzed by a specialist in the department of laboratory medicine, combining various evidence such as allele frequency in population databases, frequency, function analysis and computer prediction, and papers and mutation databases. However, the interpretation of the variation could be changed as additional evidence builds up after the results are reported.
• In this test, it is a rule to report mainly pathogenic variant and likely pathogenic variant, which have high or very high disease relevance, and not to report variant of unknown significance, likely benign variant, and benign variant. But in some genes (RET, SDHAF2), it is a rule to report only well-known PVs.
• Among the genes included in the test, the MUTYH gene is inherited as an autosomal recessive gene. For autosomal recessive genes, two PVs must exist to increase the possibility of cancer. Therefore, for MUTYH, it is a rule to report only when two PVs are present.
• The genes included in the test include the entire exon, but in some areas sequencing may not be sufficiently covered. In addition, if a highly homologous sequence exists, the sequencing of the base may not be accurate, and variations in large deletions or duplications or non-protein-coding sequence areas may be difficult to detect.
• Even if a pathogenic variant is found in disease-related genes, it does not guarantee a 100% occurrence of the disease. The timing and clinical manifestation of disease onset can vary among individuals.
• Even if no pathogenic variant associated with the disease is found, there is still a possibility of disease occurrence due to non-genetic factors such as environmental influences and lifestyle habits.

Verifying more specific details about the Test