BRCA1 & 2 mutations

BRCA1 and BRCA2 are genes that play a vital role in repairing damaged DNA and preventing the growth of abnormal cells, including cancer cells. Mutations in these genes can increase the risk of certain cancers, especially breast, ovarian and prostate cancers.  In general, about 69-72% of women who inherit a harmful BRCA1 or BRCA2 mutation will develop breast cancer, and 17-44% of women who inherit these mutations will develop ovarian cancer by the age of 80. BRCA2 mutations are also the most common genetic factor in prostate cancers. Since these mutated genes are inherited from parents, identifying the presence of these mutations in healthy family members can help in early diagnosis of breast, ovarian or prostate cancers or prevention of these cancers altogether.


Studies have also shown that somatic mutations in the BRCA1 and BRCA2 genes are clinically relevant in the selection of therapy for patients diagnosed with ovarian, breast, prostate, and pancreatic tumors. This test helps in identifying patients that harbor a somatic BRCA mutation who may respond to treatment with PARP (poly [ADP-ribose] polymerase) inhibitors and be sensitive to platinum-based therapy.

  • Next Generation Sequencing (NGS)
  • Blood/ FFPE tissue (Paraffin Block))
  • 14 days

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