Genes

Hello there! I'm sure my surgical team did some tests, and I was told that I would get a "copy" of the study I took part in when it was done, but I never received it. I would have like to know what it said. I don't even know now where or if I could obtain it. It was at University of Alabama Birmingham. Things have changed alot medically, but I still would like to know. They even sent someone out to my house to interview me. I was counting on the information!

Since my uterus was not fully developed in the womb (the mouth, or opening), while I was in-utero, I have wondered if my mother had gene abnormalties, because she had cervical cancer at 36 (I was 12). Her's was caught in a Pap Test early and treated. She did well. But that was so long ago. If both occurrences happened today, I believe at least some of the outcomes would have been different, in a positive way.

My mother did smoke, and drink alcohol occasionally while pregnant. And while there are differences in opinion about this, some medical, some take offense to the suggestion; I believe it has to have a negative effect just by common sense. Especially with two babies at the same time are needing nutrition from the mother.

p.s. Would love to hear from you on this (if you have any thoughts)!

This is a very personal reply to a very difficult question. Again, not a doctor but going from my own personal experience with the test.

First of all, the genetics people tend to prefer to test someone who already has a cancer diagnosis. If their test is "clean" then a genetics counselor would probably advise against testing (unnecessary).

Having said that, in my own situation, I was dx'd with an invasive breast cancer in 2006. I was under 50 and my mom was a "survivor" who was also under 50 at dx (of her first BC).

I did counseling and BRCA testing because I had a cancer diagnosis. BOTH of my genes are mutated. They are of "unknown significance" and may be close to be classified as "non cancer causing." When my test came back with mutations, my mom was tested. HER test? NO mutations at all.

If you know there is a mutation in someone who had BC and you choose to have the test, I would suggest absolutely discussing with a genetic counselor. It's important you understand the ramifications of the test results and how they might cause emotional issues, if for example, you tested positive. This is a slippery slope. Some people prefer to NOT know and just continue the recommended screening for their situation. Others (me) need every detail.

Good luck to you.... I have a huge family cluster and no known mutation. My daughter is at a very high risk without the mutation. This is scary stuff.

AnneMarie

You will learn if you have a gene mutation on BRCA1 or 2. Just b/c you are negative does not mean you do not have some type of genetic predisposition for breast cancer, just means you do not have that specific mutation.
Check out my section on BRCA as its very informative
http://www.mybreastcanceranswers.com/brca/brca

Heather
www.mybreastcanceranswers.com

One can divide the answer to this question into two parts, firstly, patients who have been diagnosed with breast/ovarian cancer, and secondly, unaffected family members.
For the first part I will list the current (April 2011) NCCN guidelines for BRCA 1 and 2 testing:
Women aged 45 or younger at age of diagnosis of breast cancer.
Women aged 50 or younger with 2 breast cancers, first cancer diagnosed less than 50 years of age.
Women aged 50 or younger with breast cancer with a close relative diagnosed with breast cancer age 50 or less (or ovarian cancer any age).
Women aged 50 or younger with breast cancer and limited family structure.
Women aged 60 or younger with triple negative breast cancer (ER,PR, Her-2-neu negative).
Woman with breast cancer at any age and 2 other family members with breast, ovarian or pancreatic cancer.
Woman with breast cancer at any age and one male family member with breast cancer.
For unaffected individuals who have a relative with a known BRCA1 or 2 mutation, site specific testing can be done. In families in whom there are no affected individuals still living, then the person whose result would yield the most meaningful information should be tested first. For example, if an unaffected patient came to me with a family history of four paternal aunts with breast cancer, all deceased, and an unaffected father still living, then the father should be tested before his daughter. If he tests negative, there is no need to test his daughter.