BRCA1 and BRCA2 are important human tumor suppressor genes, located on chromosomes 17 and 13, respectively. They play a key role in the homologous recombination repair (HRR) pathway of DNA double-strand breaks and are essential for maintaining genomic stability.
Germline pathogenic variants in BRCA1/2 significantly increase cancer risk, particularly breast cancer (lifetime risk of approximately 60%) and ovarian cancer (approximately 30%–60%), as well as pancreatic and prostate cancers. They are the primary causative genes of Hereditary Breast and Ovarian Cancer (HBOC) syndrome.
In clinical practice, BRCA testing provides dual value:
Genetic risk assessment – enables screening, prevention, and family management for high-risk individuals with hereditary cancer;
Precision medicine guidance – BRCA mutations (including somatic mutations) are key predictive biomarkers for the efficacy of PARP inhibitors (e.g., olaparib), and test results directly inform treatment decisions for cancer patients.
Therefore, BRCA1/2 has become an essential core testing target in cancer genetic counseling and precision oncology.
Genecast BRCA is designed for the qualitative detection of multiple mutations in the BRCA1/2 gene from patients with breast, ovarian, prostate, and pancreatic cancers.
The assay delivers full-region coverage of the BRCA1/2 genes, including protein-coding regions and splice sites, and large genomic rearrangements (LGRs).
All variants are interpreted in accordance with the latest ACMG guidelines and authoritative databases, providing precise and clinically actionable reports to support decision-making.
| Enrichment Method | Hybrid capture | |
| Panel Design | BRCA1/2 (include LGRs) | |
| Sequencing Platforms | NovaSeq 6000/NextSeq 550/DNBSEQ-T7/DNBSEQ-G400 | |
| Package | 24 tests/kit | |
| Catalog Number | ZYSR-01501 | |
Genetic testing
Detects SNVs, Indels, and LGRs in BRCA1 and BRCA2 from peripheral blood or tissue specimens to support risk assessment for HBOC and other hereditary cancer syndromes.
Treatment guidance
Identifies patients with pathogenic or likely pathogenic BRCA1/2 variants who may benefit from PARP inhibitor therapy, offering supporting reference for clinical treatment decisions.
Ⅰ. Tissue Samples
Tumor tissue obtained via surgical resection or core needle biopsy. Tumor cellularity shall be ≥20%, and necrotic tissue area shall not exceed 50%.
FFPE samples (stored no more than 3 years):
| Type | Requirements |
| Paraffin sections | ≥12 pieces (5–10 μm thick, tissue area ≥1 cm²) for surgical/large biopsy cores; ≥15 pieces (5–10 μm thick, tissue area ≥0.1 cm²) for small biopsy cores. |
| Paraffin rolls | ≥4 rolls (surgical/large biopsy) or ≥6 rolls (small biopsy), 5–10 μm thick. |
| Paraffin blocks | same quantity criteria as paraffin sections. |
Fresh tissue samples:
| Type | Requirements |
Immerse in 10% neutral buffered formalin immediately after resection; nucleic acid extraction within 72 hours. | |
| Surgical tissue | ≥0.5 cm³; biopsy cores: ≥3 strips, each >1 cm in length. |
Ⅱ. Peripheral Blood Samples
Collect ≥8 mL whole blood in an cfDNA BCT, 1 tube; Invert the tube 8–10 times immediately after collection.
The whole blood specimens are transported at 6-37°C within 7 days. Do not refrigerate or use the ice bag during transportation before processing.
Ⅲ. Buccal Swab Samples
Rub the swab tip against the inside of one cheek using a brushing motion for 30 strokes. Repeat on the inside of the other cheek using a separate swab.
After sampling, remove the collection tube from its packaging. Insert the used swab into the tube and snap the shaft at the marked breakpoint. Secure the cap and invert the tube 5–10 times to mix the contents thoroughly.
Complete BRCA1/2 Reporting（inclue LGR）
5–7 Working Days Turnaround Time
Flexible Sequencing Platform Options
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Tel: +65 6047 0252 ; Email: info@genecast.com.sg
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