Genetic Testing - Who should get tested first?

whitenack

Hi All,

First post.

My wife's mom was just diagnosed with breast cancer. Don't know all the details, she goes to see the surgeon to discuss the plan of attack tomorrow. However, this makes the 2nd direct family member of my wife to come down with breast cancer. Her sister is a double BC survivor before the age of 30. Obviously, this puts my wife at an increased risk to develop cancer as well and our thoughts have turned to genetic counseling/testing.

Who should be the first to be tested? A friend of our's who has been through this before was told that the oldest living relative with cancer should be tested first. However, when my wife called a counselor at a local, respected hospital, they told her it should be her sister that is tested first.

It is my understanding the BRCA genes mutations are passed on from parent to child at a 50/50 rate, where one sibling could get it and the other might not. If so, why test the sister first, and not the mother? If the sister doesn't have it, that really doesn't mean anything, right? Or, is the counselor pretty sure that her sister has the mutated gene and wants to test her first since sisters will be closer genetically?

jacee

I am not sure who should be tested first. But, I was tested due to 4 family members having breast cancer. I tested negative. BUT, the counselor told me, once I was tested (cost $3200), it would only cost about $400 for any family member....because the DNA strand had already been identified. So, I would say whoever has insurance that will pay for the initial test should test first.

If  someone has a mutation, their parents, children, brothers and sisters have up to a 50% chance that they have the same mutation. Even if the mother doesn't have it, it can be passed down by male family members as well. Even if the male member doesn't have cancer, he can pass it down at the same 50% rate. So, really the only way you can know, is to be personally tested.

Kathleen26

I heard a lot of the same stuff from counselors who were asking me to get relatives tested first, but they would not/could not, and I finally got tested myself.   The person who has the most to gain from finding out whether she has the gene is your wife, and so she should be tested, period.   You don't have to wait to find out if anyone else has the gene.   The fact that two first degree relatives had breast cancer is enough to warrant the test for your wife.

Beesie

You are correct that the gene is passed from parent to child, and if the parent carries the gene, then each child has a 50/50 chance of inheriting the gene.  So the person who needs to be tested first is your wife's mother, assuming that she is willing to be tested.  It is always recommended that someone with breast cancer be tested first, and preferably, someone from the oldest generation.  The testing is a simple blood test but there are a lot of different BRCA mutations so the lab would do a very thorough analysis of your wife's mother's sample to see if any of the mutations are present.

If it is found that your wife's mother carries a BRCA mutation, then you wife should be tested to see if she inherited it.  Because at that point the specific mutation will have been identified, the analysis of your wife's blood sample can be done much more quickly and inexpensively, because the lab will know exactly what they are looking for - it won't be a needle in a haystack as it would be with your mother-in-law.   

whitenack

Thanks for the responses.  Just to update...

 All of this looks to have worked itself out, as it usually does.  Her sister does not want to get tested, but her mom's surgeon wants her mom to get tested to help guide her cancer treatment options.  So, her mom has already had her blood drawn and we should know the results in a couple of weeks. 

shabby6485

hi, in  my case, they had my mother (who had BC in her 30s) test first. if she tested positive for the gene, I would have tested.  Fortunately, she did not have the BRCA gene.  best wishes to you.