Questions on sequencing test

sgreenarch

Hi. I would appreciate your help on this one! I had the simple test for BRCA 1 & 2 and am considered BRCA1/2 negative, however I opted to go for the extended sequencing test (Ashkenazi Jewish and 6 cousins from one line of the family have all developed breast cancer in their 40's.) Results came back with 3 mutations in BRCA2 that considered 'not clinically important.' That is, they are not known to cause breast or ovarian cancer. Does this mean that they just don't know about them yet? What should I do with these results? Are some variations normal? Can't find them when I google them. Listed are the Nuc change, the AA change and a ref number. As I don't have my genetics degree this week, I'm kind of at a loss. Of course I'll speak with the genetecist but wondered if any of you ladies have had similar experiences or knowledge....(Thanks.)

Mutd

The normal variations are usually easy to Google. But not all of the labs use the same numbering system, so sometimes a name used by the lab doesn't match the older stuff in the search engines.

Many labs don't even report normal variations (except when specifically requested) because these variants wouldn't change amy risk management, but will confuse many patients and physicians too. Of couse there is nothing a good geneticist wouldn't sort out, but it is so unsettling to wait in the dark...

If you don't mind posting the three variants here, then we can "check spelling and numbers" & search together (I don't know much about BRCA testing in Israel, like is there one national testing service or a bunch of independent labs, and what are the standarts for naming and reporting the variants)

sgreenarch

Dear Mutd, thanks for your quick response. I am waiting to speak with the geneticist to explain the results. I just thought there might be an easy way to google them and look them up. NOT! The geneticist I used is wonderful, and I'll keep you posted if I learn anything that may be helpful to all of us. Thanks.

Mutd

One place to look is this database page from the Netherlands (they list several alternative names for each of nearly 500 BRCA2 variants found in various publications). It's not like they covered all possible versions of how one might creatively spell a variant name ... but at least most of them. And at the least the 3 commonest Ashkenazi mutations are given the most traditional names by the Israeli researchers ... so I would be very surprised if the same labs went like super-creative with the lesser variants.