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Testing for BRCA1 and BRCA2 genes can identify people who have a higher risk of developing breast and ovarian cancer. If a positive DNA mutation is discovered in one person, other family members can be tested to determine if they also carry a BRCA mutation.
Once you learn if you carry an inherited BRCA gene mutation, you can understand better your personal risk of developing breast or ovarian cancer. You can talk with a genetic counselor and your health care provider about measures you can take to reduce your cancer risk.
To reduce your cancer risk, you may choose to:
However, not everyone who has their DNA tested for BRCA mutations gets clear results. There are times when the genetic tests show variants of uncertain significance (VUS) that have undefined risks of cancer. Individuals found to have these VUS cannot benefit from individualized cancer risk assessment that comes from a positive test result. In addition, a VUS cannot be used to determine risks of cancer among relatives of the tested individual.
Recently, scientists from around the world collaborated on developing a new model to help understand the clinical meaning of some of the known VUS in the BRCA genes. The model mathematically combines multiple lines of evidence to produce a number (or score), called the posterior probability. This probability score reflects the result from calculations that measure the chance that a VUS is or is not likely to be a real BRCA mutation or a harmless difference.
This new model is helping people who have VUS better understand their personal risk. However, more research is needed to understand all the variants as they are discovered. The field of genetics is evolving every day, so look for updates to this from Mayo Clinic.
For more on VUS and probability scores, check out mayoresearch.mayo.edu/mayo/research/womens_cancer/projects.cfm.
I'd love to hear from those of you who have experienced BRCA testing. Share your thoughts with others through the blog.
Follow me on Twitter at @SherylNess1. Join the discussion at #livingwithcancer.
Sheryl M. Ness, R.N.
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My 40 year old daughter has just finished 12 rounds of chemo for stage 3 colon cancer. Her oncology office asked if I would do a check swab for research and it came back that I have a variant gene. I have no idea what this means, but brain cancer and prostate were mentioned along with this.
Good Morning! On October 19, 2014 I received my results from genetic testing...I do not carry the mutated BCRA gene! Very happy and relieved. With this result, I am not eligible for high risk screening. I was diagnosed in January 2014 with DCIS, surgery for lumpectomy March 2014 and 30 sessions of radiation ending June 2014. I am on tamoxifin for five years. However, as I was premenopausal and with the tamoxifin an addition to my new "science breakfast", my endometrial lining has doubled in thickness. I am HEAVILY pressing my gyno for a total hysterectomy! I am being proactive as I want to radically decrease my chances of ANY reproductive cancers. I am 52 years old and I'm done with populating the world! My suggestion to any breast cancer patient is to consider any and all opportunities to mitigate future risk...ask the hard questions and if you can't get the right answers, keep pressing! Stay positive, stay present and remember to inject a little humour into your day...EVERY DAY!
I was diagnosed with ovarian cancer stage 3b and had surgery last July 2013------I tested BRCA 1 VUS----------so it seems the variant I have would be related ?
This is for Vivian and others considering the BRCA testing. It's a personal decision to have the testing. You may want to discuss this with your primary care provider who can help you make an informed decision. You also may want to talk with other family members to see if there are other related cancers within your family (such as ovarian cancer).
My mother died of breast cancer at age 82 and my sister died of breast cancer at age 64. Should I have a BRCA test done?
Cancer(of various kinds) is very prevalent in our family. My sister died of ovarian cancer at 48. Her daughter was diagnosed with breast cancer at 29. My mom had breast cancer at 51 but died of colon cancer at 79. My dad died of colon cancer at 82. There are 8 children in our family. After my sister's death and my niece's diagnosis, I was tested for the BRCA gene, tested positive and had my breasts and ovaries removed. My four daughters were tested, they were all negative(praise God.) My sister's other daughter's were tested-two positive, two negative. The positive ones also had preventive surgery. Now one of my brothers has been diagnosed with liver and lung cancer. If he had been tested for the BRCA gene would he have benefited by the knowledge and done something preventive or is this gene just for breast and ovarian cancer. Thank you so much.
I went for my annual mamogram November 1 of 2011. The followup ultrasound revealed a likely cancerous breast lump in my left breast. Followed up with lumpectomy and thought all was fine until I was checked for the BRCA gene as my Dad died in 1974 witl breast cancer. Unfortunately, I tested positive for the BRCA2 gene and was then advised if I did not do a double masectomy, I had an 84% chance of recurrence by age 70. I was 61 at the time of diagnosis and have just turned 62 in June. Underwent 4 chemotherapy treatments and then double masectomy with flap reconstruction in April of 2012. Finally, I am beginning to feel better from the past year long journey. I feel so blessed to have found this lump early as my doctors have told me had I not found this in my annual mammogram, it would have been aggressive. My advise to every woman is DO NOT PUT OFF YOUR ANNUAL MAMMOGRAMS. My lymph nodes all tested negative so I am hopeful that I will be able to be here for more blessed years with my grandchildren. My daughter was immediately tested for the gene, and thank the good Lord above, she tested negative. We rejoiced together.
Are there undiscovered genes that cause breast cancer? I know about BRACA but there must be more genes that cause BC.
Thanks for any response,
A few people have asked about current BRCA1 and BRCA2 research studies. Go to the NCI website factsheet on BRCA to find additional information about research and the BRCA mutations - www.cancer.gov/cancertopics/factsheet/Risk/BRCA
I have had the BRCA genetic testing. Mine came back fine, but I have so much Breast & Pancreatic cancer in my family, (great grandmother breast, Grandmother, Mom & cousin pancreatic, sister breast - all have passed away. I have a couple of other cousins that have had breast cancer that are doing fine. They do check me twice a year for the breast. I do have an ultrasound of my pancreas once every couple of years.
My 41 year old daughter had regular mammogram and two small areas of calcification in right breast warranted core needle biopsy to find Stage 0 DCIS in situ. Since breast cancer ran on her father's side, she opted for bilateral mastectomy w/reconstruction in June. Lymph nodes were clear and pathology reports indicated that she was cured of the cancer. She recently had BRCA testing which indicates BRCA2 suspect deleterious. No ovarian cancer on either side of the family. Decision to have ovaries and tubes removed is very difficult.
I tested Positive for BRCA2. My family history was at that time a brother and a sister with breast cancer. I am cancer free at this time and get regular checkups. this year my third sibling was tested positive for breast cancer. I am 71 years old so I do not worry too much about the possibilities of cancer. One of my daughters had the test done and was negative. The other daughter will not test. Sons know of my history but ignore it as guys usually do.
My mother had ovarian cancer; so when I was diagnosed with it too, I decided to get tested. I have the BRCA 2 mutation. My adult daughter and son both went for testing after my result. My daughter also has the mutation, but my son did not. My daughter had her ovaries removed as a precaution and is followed closely with mammograms and MRIs every 6 months. With my son's good results we don't have to be worried about his daughters. I wish I had gone for testing as soon an my mother was diagnosed. If I had I might have been diagnosed much earlier than the Stage 3C that I was in when finally diagnosed. It took 2 years of many doctors' visits and varied diagnoses before the OCa was diagnosed. I am fortunate to still be here 9 years later. My mother was not so lucky and only lived 4 years before recurrence and death.
Although I was blessed with a negative BRACA my 24 year old neice was not. She went for a mamogram because of this testing and was found to have stage II in one breast and early ayticical cells in the other. she courageously chose double mastectomy and has now saved eggs in the event that she chooses hysterectomy in the near future. Her younger sisters tested negative. Had this testing not been avavilable, it would have been unlikely that we would have looked for cancer in this very healthy appearing 23 year old. although her grandmother and aunt passed at age 30 and 59 we never dreamed that it was even a possibility that the same thing could happen at such a young age. We are so blessed that despite a bad test, she has been saved and is now engaged and planning her wedding with a man who has loved her through it all.
My 2 daughters and I are BRCA2 mutation positive. My one daughter had a prophylactic matectimy w immediate reconstruction @age 25. My other daughter is being monitored closely. I went in for a prophylactic mastectomy, and DCIS was found...am glad I did it! My one daughter and I are being featured in the sept-oct issue of Rochester Women Magazine. The staff at Mayo was great. Genetic couseling was invaluable.
I have a positive BRCA2 test result and have screening every 6 months. Currently we are discussing preventive measures such as medications or surgery.
Although BRCA negative, many of my cousins and aunts and closer relatives had(have) breast cancer and it makes one wonder how many variants of hereditary genes there are for cancer beyond BRCA.
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