Highlights from the MedHelp Genetics Forum: BRCA Genetic Testing

by Dr. Hsien-Hsien Lei
Posted October 3, 2007 in DNA and Disease

DNA Direct Certified Genetic Counselor, Lisa Kessler, has been doing a great job at the Medhelp Genetics Forum. Here’s a recent question and answer about BRCA genetic testing for breast and ovarian cancer susceptibility that I found particularly informative.

Question:

Hi!! Just wondering about BRCA testing, my dad has lost a sister, an aunt and a first cousin all under age 50 to Breast Cancer. I’m encouraging my dad to have the BRCA testing…if it’s negative does that mean my siblings and I are in the “clear”?? Or should we all be tested as well???

Genetic Counselor Lisa Kessler’s response:

You have a significant family history of breast cancer on your father’s side of the family. Your dad may benefit from talking with a genetic counselor who can take a detailed family history of all cancer diagnoses, and provide risk estimates for the chances that a BRCA 1 or BRCA 2 mutation is causing the breast cancer in your paternal family history. A genetic counselor will also explain who in the family is most informative to test first. In general, if possible, it is best for someone who has been diagnosed with breast and/or ovarian cancer to have BRCA1/2 testing first. Having genetic counseling does not obligate people to have genetic testing. Your father can find a genetic counselor through the National Society of Genetic counselors.

As you know, BRCA 1 and BRCA 2 are two genes associated with an increased risk of hereditary breast and ovarian cancer. The genes are inherited in an autosomal dominant way. They can be passed equally to men and women. Someone with a gene mutation in BRCA 1 or BRCA 2 has a 50% chance of passing it on to each child that they have, and a 50% chance of not passing it on.

If your father is tested and he tests negative, then testing would not be indicated for you and your siblings. However, unless there was a mutation previously found in one of your relatives with the cancer, we would not know why his test was negative. Perhaps he was fortunate and did not inherit the mutation in the family or perhaps BRCA1 or BRCA2 are not the causes of the breast cancer in your family. It is also possible that the testing did not detect a BRCA1/2 mutation that is present and is a false negative. Because of this uncertainty, even if your father’s tests are negative, you would not be in the “clear”, but would remain at increased risk because of your family history. If a mutation is found in the family, and you test negative for the family mutation, then this is known as a true negative, and your risk for breast cancer would be reduced back to the risk for the general population.

If you have a question about genetics and health, why not head over to the Medhelp Genetics Forum and ask Lisa?

Disclosure: I work for DNA Direct.

Tags: breast cancer, brca, genetic counselor, genetic counseling, forum, genetics, genes, dna, health, disease, medicine

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Pingback by Books About DNA: Abraham’s Children by Jon Entine

2007-10-15 11:21:56

[...] for the cancer deaths of my mother, aunt and grandmother years before. I tested positive for the BRCA2 mutation as well; my young daughter, who is half Jewish, has a 50/50 chance of carrying it, though we [...]

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Comment by manicmelanie

2007-11-01 05:35:57

I just joined and wanted to say hi to everyone. Also, I noticed that the forum runs off my screen.

Anyone else notice that?

melanie

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Comment by Kim Richards

2009-02-20 20:08:30

Hello, My name is Kim and I am from New Zealand. I was diagnosed with the Brca 1 gene 3 and a half years ago. My mum died just before I was diagnosed but we managed to test mum before she passed away as there was alot of family history with breast cancer eg. my grandmother dieing at the age of 36 with cancer in both breasts. I had just turned 35 when I was diagnosed and I was the only one with the gene out of me and my two sisters. I had a total hysterectomy 3 months later after been diagnosed and 2 double masectomy’s 4 months apart with reconstruction. It has been a tough road and would love to give my suppor to anyone whom has the same gene. Love Kimxxx

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