Overview

Preparing a healthier Tomorrow

Hereditary Breast and Ovarian Cancer Syndrome drastically increases the risk of breast, ovarian, prostate,
pancreatic cancers and melanoma due to genetic defects in BRCA1 and BRCA2 genes. Testing for BRCA1
and BRCA2 genes helps in determining whether the examinee is a high-risk group Hereditary Breast and
Ovarian Cancer Syndrome patient or not, allowing the examinee to receive proper medical management,
increasing the chance of cancer prevention and early detection of cancers or improved quality of
treatment. To Breast and Ovarian cancer patients, the genetic defects on BRCA1 and BRCA2 can be
influential in choosing the correct drug(poly ADP ribse polymerase(PARP) Inhibitors).

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What is a BRCACancer discovery ?

Early Recognition leads to prevention

BRCACancer discovery is a NGS (next generation sequencing) based test for BRCA1 and BRCA2
genes, that are associated with Hereditary Breast and Ovarian Cancer Syndrome.²
To find the variants at a high sensitivity, the test is performed to have average of 500x read of depth and
99.9% of the bases have at least 30x reads of depth.

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Detectable Diseases

With just one test, risk of hereditary cancer associated with BRCA1, BRCA2 genes can be assessed

The following are the hereditary cancers detectable by BRCACancer discovery

To whom is the test useful to?

Know your risk 검사대상 이미지
  • Anyone whose family member has breast cancer incidence or has many family members with breast cancer incidence
  • Anyone whose direct family member has Ovarian cancer incidence. (including Fallopian tube caner, or primary peritoneal cancer)
  • Anyone whose family member has bilateral primary breast cancer, not metastasis
  • Anyone whose male family member has breast cancer
  • Anyone whose family member has Triple-negative breast cancer.
  • Anyone whose family member has pancreatic/prostate cancer along with breast cancer or ovarian cancer.
  • Anyone whose family members have above cancers in multiple members

Test Procedure

SD Genomics is a reliable genetic testing service company

SD Genomics performs genetic tests to the requests of medical institutes following the Bioethics and Safety Act. Prior to service request,
understanding the objective of the test, reporting method of the test, and limitations of the test is necessary.

검사절차 이미지
Hospital
Draw Blood at the hospital.
The Test receives information and fills out the
‘Genetic Test Consent’ form.
The hospital’s staff fills out “Genetic Test Request
form”.
SD Genomics
SD Genomics receives the samples and required
forms.
SD genomics performs the requested test and
analyzes its results.
SD Genomics fills out the test report and sends it
Hospital
After receiving the report, the hospital dose the
genetic counselling.

Test info

Specimen
requirement
  • Whole blood (3-5 cc EDTA tube)
  • DNA 5 - 10 ug TE buffer(min. density 50 ng/uL, A260/A280 ratio: 1.65-2.0)
Sample Logistics
  • Whole Blood or DNA 15-30 ℃ room temperature(within 24 hours) 2-8 ℃ refrigerated (within 7 days)
    -30 ℃ Frozen (more than 7 days)
Required Documents Test Requirement and Consent form (provided below)
TAT Within 4-6 weeks
Report Criteria Positive : When genetic variants that are likely to cause diseases are found
Negative : When genetic variants that are likely to cause diseases are not found
Uncertain: When genetic variants are found, but is not possible to be interpreted due to current level of medicine (When requesting institute has supplied with phenotype information)
*Consider the mode of inheritance in variant interpretation

Resources

References
1. Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [Updated 2016 Dec 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors.
GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1247/
2. Park KS et al., Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guide
lines for interpreting sequence variants, Genet Med 2016;18:1250-1257