Dr Siddiqui reviews disease specific panel results with patient

Hereditary Disease Risk

Do you wonder whether you are a carrier of any genetic deviations? Did you know that many deviations or mutations are recessive and can lie dormant in your body, with no physical or mental manifestation?

Your personal genetic code is made up of 23 pairs of chromosomes. There are an estimated 19,000 to 20,000 human protein-coding genes within your genome. When we are born there is the potential for any number of these genes to mutate as you develop.

Your genes carry specific information about your health, including the potential for carrying or developing diseases as a result of certain mutations of your genetic code. Some mutations can be problematic, and there are genetic tests designed to tell you if you are predisposed or at risk for certain diseases.

Since specific genes have been identified as having a higher chance of developing certain diseases or cancers, this kind of information can help your team at Copeman map out an appropriate prevention plan. Ideally, your prevention plan will deal with potential concerns before they take hold.

 

BRCA1 & BRCA2

The BRCA1 and BRCA2 test is most commonly performed with a blood sample but can also be performed with saliva, tissue or banked DNA. More than 2,600 mutations have been found in the BRCA1 and BRCA2 genes. It is estimated that 1/300 to 1/500 individuals carry a BRCA1 or BRCA2 mutation. While some mutations are not harmful, some mutations of this gene can lead to an increased risk of developing certain cancers, developing cancer at a younger age or developing more than one type of cancer.

Examples of prevalent cancers from the BRCA1 and BRCA2 mutation include breast, ovarian, fallopian tube, peritoneal, melanoma, pancreas and/or prostate cancer. Men and women can pass these cancer risks to their children. Even with only one BRCA1- or BRCA2-affected parent, there is a 50% chance that genes identified in these tests can be passed to your children.

Cancer-risk reduction is part of a proactive healthcare plan. With your BRCA1 and BRCA2 test results, you and your Copeman care team can make more informed decisions to ensure the best possible health outcomes.

WHO SHOULD BE TESTED?

Those considered to be at higher risk include people with:

  • Breast cancer diagnosed at age 50 or younger
  • Multiple primary breast cancers either in the same breast or opposite breast
  • Triple-negative breast cancer at age 60 or younger (ER-, PR- and HER2/neu-)
  • Ovarian cancer, fallopian tube or primary peritoneal cancer at any age
  • Both breast and ovarian cancer
  • Pancreatic cancer with breast or ovarian cancer in the same individual or on the same side of the family
  • A previously identified BRCA1 or BRCA2 pathogenic mutation in the family. If an individual in the family has been identified as having a pathogenic variant in BRCA1 or BRCA2, familial variant testing is available with pre- and post-test genetic counselling. Please contact us for more details.
BRCA 1 and BRCA 2 Test
$690

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