BRCA 1 & 2, ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, RINT1, and possibly MSH6 and PMS2 genes
Posted on: Dec 13, 2018 08:01AM
I had triple negative bc. Told all clear now and also gene test came back negative for all 20 include brac but was an inconclusive for this RAD one. Do I need be worried? Kind of wish I'd not had it done now. I'm 43. Have a 4 year old. So sick of worrying. Any one else in my situation? Oh I also had a bilateral mase
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Sep 26, 2019 07:04PM vlnrph wrote:
Ambry has it on their panels, Myriad does not.
Studies from northern Finland about 15 years ago found a pathogenic variety, possibly implicated in ovarian CA. Do you have a genetic counselor to help monitor reports?
Also, consider joining the PROMPT study. By pooling individual results, it may lead to clarification of the risks associated with some of these more uncommon mutations.
Sep 27, 2019 10:54PM Irishlove wrote:
Hi and thanks for responding. I do not have a genetic counselor. My guess is because my insurance, a Medicare Advantage HMO, is not willing to provide one. The BS interpreted my report. I did join the PROMPT study. I hope others join it, too.
Sep 28, 2019 12:59AM - edited Sep 28, 2019 01:00AM by CGLion
I don't have my genetic test back yet, but I have a very basic understanding of how the genetics work. And I was lucky enough that at my new BS office my surgeons PA is a genetic counselor. So she explained it to me again. What I understand of the process is that we all have these genes, and each of the genes have different variations (alleles). Some of those variations have been found to not have any association with an increased risk of carcinoma and are not pathogenic. Other variations have been proven with several studies to have statistically significant likelihood of increasing chances of carcinoma and they are called pathogenic. The ones that are considered variations of unknown significance have not had enough research done on that variation to determine if they are not pathogenic or if they are pathogenic. From reading research articles it is possible some of these variations may only be pathogenic when combined with other specific variations from a different gene, which could be why they have not been able to completely classify that variant yet.
Each gene variation should have a name, basically a string of letter and numbers that means something to people smarter than me. Your gene report should have that listed. With that in hand you can search Google scholar and look for any research articles done that include that variant. It might help you know more about what the risk from that variant is, even if the results are not statistically significant yet.
I did a quick search for the Rad50 gene and found this site that looks like it has information about some of the variants. Hope this helps!
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