Genetic Testing?

I was referred for genetic testing after my excision revealed LCIS and nothing worse, because at the time I only knew I had 1 postmenopausal maternal aunt, and a paternal grandmother (?age) with bc.  My paternal grandmother had no daughters.  I think I was referred because my paternal grandmother had no daughters, and at the time I didn't know if her bc was pre- or post-menopausal.  I later found out my paternal grandmother's bc was post menopausal.  The genetics counselor gave me a 2-4% chance of having a deleterious BRCA mutation (which is the approximate incidence of a deleterious BRCA  mutation for an average Ashkenazi woman.) 

Here are the USPTF guidelines:

These recommendations apply to women who have not received a diagnosis of breast or ovarian cancer. They do not apply to women with a family history of breast or ovarian cancer that includes a relative with a known deleterious mutation in BRCA1 or BRCA2 genes; these women should be referred for genetic counseling. These recommendations do not apply to men.

Although there currently are no standardized referral criteria, women with an increased-risk family history should be considered for genetic counseling to further evaluate their potential risks.

Certain specific family history patterns are associated with an increased risk for deleterious mutations in the BRCA1 or BRCA2 gene. Both maternal and paternal family histories are important. For non-Ashkenazi Jewish women, these patterns include 2 first-degree relatives with breast cancer, 1 of whom received the diagnosis at age 50 years or younger; a combination of 3 or more first- or second-degree relatives with breast cancer regardless of age at diagnosis; a combination of both breast and ovarian cancer among first- and second-degree relatives; a first-degree relative with bilateral breast cancer; a combination of 2 or more first- or second-degree relatives with ovarian cancer regardless of age at diagnosis; a first- or second-degree relative with both breast and ovarian cancer at any age; and a history of breast cancer in a male relative.

For women of Ashkenazi Jewish heritage, an increased-risk family history includes any first-degree relative (or 2 second-degree relatives on the same side of the family) with breast or ovarian cancer.

About 2 percent of adult women in the general population have an increased-risk family history as defined here. Women with none of these family history patterns have a low probability of having a deleterious mutation in BRCA1 or BRCA2 genes.http://www.uspreventiveservicestaskforce.org/uspstf05/brcagen/brcagenrs.htm#clinical

I had genetic counseling, but since my risk was so low, I decided not to have testing.  (The test expenses would be out of pocket, and would have been about $4K in 2006.)  I was very glad I had genetic counseling though, because they told me I had a low probability of having another weird condition called Cowden's Syndrome, which I had never heard of.  They ended up saying Cowden's would 'be a stretch', so I didn't have testing for that either; again, it would be out of pocket.  Cowden's is a rare condition; at the time I researched it, there were only about 200 people worldwide - ever - who had genetically been diagnosed with it.  

I'm glad I had the counseling, though.  It cost about $300 out of pocket in 2006.  I knew they were being thorough because they questioned whether or not I had Cowden's.

Your mileage and choices may vary, of course.

If your insurance covers the testing I don't see any reason why anyone wouldn't get it. It is a modern diagnostic tool that only gives you more knowledge. If you have a first degree relative with breast cancer, most insurance companies (at least in my area) will cover the test. You can also probably fight it out with the insurance co if they say no at first. In my area (NYC) the doctors fight it out for us with the insurance co. I was only responsible for $600 of the $4000 test. 

However, the genetic testing is in its infancy and there are supposedly lots of mutations they don't even know about. In my family, my paternal aunt had pre-menopausal breast cancer as did I and my father (my aunt's brother) had a melanoma. The high risk genetic specialist oncologist  at NYU feels we have a familiar tendency not yet discovered as we are negative for BRCA.

NYU has a study for Ashkenazi Jewish women who have at least two relatives with breast cancer who are BRCA neg. They are looking for new mutations. They need lots more participants and will send you a swab test in the mail if you qualify. 

Hi!

I´m trying to get any help I can on this one:

I´m a brazilian ashkenazi. Both sides of my family have a history of breast cancer - ALL of the affected women had never given birth. We are 7 on my mon's side, 2 on my father's side, considering 3 generations.

I was dx at age 32 with ductal invasive carcinoma, st IIIb. It was all very fast - my tumor reached 8 cm in 45 days.

My onc really wants me to get tested in order to have preemptive mastectomy on the other breast and have the ovaries removed. Doctors are VERY reluctant to prescribe preemptive mastectomies down here.

In my specific case, strongly feels that I should be tested in order to go down that way. Problem is, testing in here is not covered & incredibly expensive - and my insurance wouldn't cover testing done in the US.

 Does anyone know of a reliable lab that offers testing via cheek swab (blood tests are not a possibility) or any group in need of volunteers for genetic studies?

Thanks a bunch!

My mom died of bc and her two Aunts above her both got it.  When i was dx with LCIS at age 47 I got BRAC12 tested and it came back negative.  I am glad I did the testing as it took some worries off my mind and limited my treatments to the breasts.  The genetic counselor thought my test would run negative, even with the strong family history.  She was correct.  My sis also took the test and came out negative.  I was somewhat concerned about future insurance issues if I got a positive, but the laws are supposed to protect you and I wanted to know as much as the current technology will bring.  Good luck to you.