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BRCA 1 & BRCA 2

Genetic Testing for BRCA1 and BRCA2

  • Familial breast cancer comprises approximately 20% to 30% of all breast cancers.

  • BRCA1 and BRCA2 are two major genes associated with hereditary breast and ovarian cancer syndrome.

  • Approximately 7 percent of breast cancer and 15 percent of ovarian cancer cases are caused by harmful changes (mutations) in the BRCA1 and BRCA2 genes.

The proteins produced by BRCA1 and BRCA2 ensure the stability of the cell’s genetic material.

  • Mutation in BRCA1 and BRCA2 makes the cells likely to develop additional genetic changes that can lead to cancer.

  • Specific inherited mutations in BRCA1 and BRCA2 most notably increase the risk of female breast and ovarian cancers.

 

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  • Hereditary Breast and Ovarian Cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer, and other cancers primarily in individuals with a BRCA2 mutation.

  • The Minagene BRCA gene test is a blood test that helps assess your risk of developing cancer by detecting a potentially harmful change (mutation) in BRCA1 and BRCA2 genes.

  • The blood sample goes to Minagene lab for DNA analysis.

  • The time taken for generating a clinical report will be a maximum of 3 weeks from receiving the samples in the lab.

  • Assessment of hereditary cancer risk.
  • Deciding the best drug treatment.
  • Early detection and improving overall survival.
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  • Who should be tested?
    BRCA1 and BRCA2 associated hereditary breast and ovarian cancer (HBOC) should be suspected in individuals with a personal or family history (1st, 2nd, or 3rd degree relative in either lineage) of any of the following characteristics[7].
  • A personal history of breast or ovarian cancer diagnosed at young age (premenopausal), bilateral breast cancer (affecting both breasts) or presence of both ovarian and breast cancer
  • A family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer.
  • A male family member having breast cancer.
  • A relative with a known deleterious mutation in BRCA1 or BRCA2 genes.
  • A history of breast cancer diagnosed below age of 45 years
  • A family member with bilateral breast cancer below age of 50
  • An individual with triple negative breast cancer below age of 60 years with or without family history
  • Two or more relatives with ovarian cancer
  • Both breast and ovarian cancers in either the same woman or the same family
  • In addition to high-risk BRCA1 and BRCA2 gene variations, there are a number of other HBOC predisposing genes recommended to be tested in case of a negative BRCA report with familial disease suspicion.
  • there are number of other HBOC predisposing genes such as TP53, STK11, PTEN, BARD1, CDH1,ATM, CHEK2, BRIP, PALB2, MSH2, MLH1, MSH6, PMS2, EPCAM, NBN, NBS1, RAD50, RAD51C, RAD51D, RAD54L, MRE11, NF1, CASP8, FGFR2, TNRC9, MAP3K1, LSP1 which are recommended to be tested in case of BRCA negative report with familial disease suspicion.
  • Minagene offers a Hereditary Cancer Gene Panel Test, which includes 106 hereditary cancer predisposing genes for all commonly inherited cancers as well as rare cancers.