BRCA1/BRCA2 Sequencing

BRCA1/BRCA2 Sequencing

Breast cancer, the most common cancer in women, is a disease in which carcinomas arise from epithelial cells in lobular and duct tissues in the breast. Breast cancer affects about 1 in 8 (~12.29%) women in developed countries in their lifetime. It accounts for 1/3 of the cancers in women and in 2017, it is estimated that approximately 40,600 people will die of breast cancers. Most cases of breast cancer occur sporadically, or without family history. However, about 5-10% of the cases are hereditary and highly associated with ovarian cancer.  Germline mutations in highly penetrant genes, mainly BRCA1 and BRCA2, have been found to be the direct causes of elevated risks of breast and ovarian cancers in women.

  • Genes (2): BRCA1 and BRCA2
  • Test Code: 2001
    Clinical Indication:
    • Confirmation of diagnosis in patients with personal or familial history suggestive of hereditary breast and ovarian cancer.
    • Assessment for at-risk family members
    Test Info Sheet: BRCA1 and BRCA2 Sequencing
  • Requisitions: General Test Requisition Form
  • Turn-Around Time: 2 Weeks
  • Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
  • Other Specimens: See details here
  • CPT Codes: 81211, 81213
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
  • Related Tests:
    Breast Cancer Panel
    iGene Cancer Panel (Comprehensive Hereditary Cancer Panel)
  • References:
    1. Antoniou, A. et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am. J. Hum. Genet. 72, 1117–1130 (2003).2. http://www.breastcancer.org/symptoms/understand_bc/statistics
    3. Frank, T. S. et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 16, 2417–2425 (1998).
    4. National Comprehensive Cancer Network., Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 2.2017). https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed January, 2017
    5. Committee opinion no. 634: Hereditary cancer syndromes and risk assessment. Obstet. Gynecol. 125, 1538–1543 (2015). Committee opinion no. 634: Hereditary cancer syndromes and risk assessment. Obstet. Gynecol. 125, 1538–1543 (2015).
    6. Robson, M. E. et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 33, 3660–3667 (2015).
    7. Roy, R., Chun, J. & Powell, S. N. BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat. Rev. Cancer 12, 68–78 (2011).

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