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Showing posts with the label #raisingawareness

If I have a relative who has had breast cancer and/or ovarian cancer, why should I get genetic testing done?

A woman is at risk of having the same genetic mutation of RAD51C as a relative (cousin, sibling, aunt, mother).  If you are aware of relatives who have had breast cancer or ovarian cancer, it is paramount that you seek genetic testing as well.

What is a RAD51C mutation? Should this test be given to most women?

Everyone has two copies of the RAD51C gene.  We inherit one copy from each of our parents.  Suppose your genetic testing results indicate that you have a pathogenic variant of this gene. In that case, it means that one of your copies of the RAD51C gene is no longer working correctly and causes a hereditary predisposition to cancer.

What will the Ontario Ministry of Health offer a woman who is RAD51C positive?

The Ontario Ministry of Health offers an Ontario High-Risk Breast Cancer Screening Program for women between the ages of 30 and 69. This screening includes an annual breast MRI and a mammogram. MRI and mammogram tests together have the highest sensitivity for detecting breast cancer in high-risk women.

Who does the ministry consider to be high risk for breast cancer?

The average lifetime breast cancer risk for women is  12% or 1 out of 8 women.  A high-risk woman is at a risk of 25% or higher.

How can I be tested for RAD51C? How long will it take to get results back?

See your family physician to request a referral to a genetics consultant in your area. Once accepted, the genetics counsellor will send you an assessment form for you to complete in regard to other family members who have had breast or ovarian cancer.  The counsellor will then send you for a blood test.  It takes the genetics team approximately 6 months to turn your results around.  The sooner you request the referral, the better.  The counsellor will call you with your results and provide a written report and suggestions for follow-up.

What is hereditary cancer?

Everyone has genes that help to protect us against cancer.  If one of these genes is not working properly, there is an increased risk of developing cancer.  A non-working gene can be passed down in families.

Who is at risk in the family?

If you have tested positive for the genetic mutation of RAD51C, your siblings and children are at risk by 50% of also having this genetic mutation.

How can genetic testing help?

  Suppose you do not have the Familial RAD51C pathogenic variant. In that case, it is reassuring to know that you may not be at an increased risk of developing cancer, and your risks are similar to the general population. If you do have the familial RAD51C pathogenic variant, this is important information for your health and should be followed up with a genetic counsellor.

What are the Lifetime risks for Breast Cancer and Ovarian Cancer (up to 80 Years)?

  Hamilton Health Sciences genetic testing labs indicate that the general population of women has a 12% or 1-8 women chance of sustaining breast cancer before they are 80 years old. A woman who has tested positive for RAD51C gene mutation jumps to a 17-30% chance of sustaining breast cancer before they are 80. The general population of women has a 1.3% chance of testing positive for ovarian cancer before they are 80 years old. A woman who has tested positive for RAD51C gene mutation jumps to 10-15% risk of testing positive for ovarian cancer before they are 80.

What are prevention options for women with RAD51C pathogenic variants?

Hamilton Health Sciences genetics team offers the following suggestions for women who have tested positive for RAD51C: Consideration of risk-reducing mastectomy Recommendation of risk-reducing salpingo-oophorectomy (removal of ovaries and fallopian tubes) Consider risk-reducing agents/chemoprevention Consider the use of contraceptive pills Unlike breast cancer, ovarian cancer is very difficult to detect early and available screening tests are not effective at detecting ovarian cancer early when it is most treatable.  Therefore, it is recommended that women with a pathogenic variant of the RAD51C gene consider surgery to preventively remove the ovaries and fallopian tubes, ideally between the ages of 45-50.