Hi PG! Yes, I see patients by telemedicine. You can schedule an appointment directly on my website: appletreegenetics.com or email me at info@appletreegenetics.com
I found your channel while researching nutritional health gene testing e.g. 10x which tests for COMT, AHCY, MTRR, MTR & MTHFR. But now I am interested in also testing for cancer related mutations, my older half-brother was taken by Pancreatic Cancer.
Sir, My relatives NGS report has been processed and results are here- TP53 mutations have been reported in various solid tumors including high grade sarcomas. These mutations have been associated with enhanced proliferation and invasion and hence an aggressive phenotype. In few studies, pazopanib has been shown to marginally increase progression free survival in advanced TP53 mutant advanced sarcomas. Therapies considering reconstruction of P53 mediated pathways are in various phases of clinical trials. What should be done for TP53 mutation, is there any treatment option available for this. Sir, kindly reply sir.. The type of Cancer is LMS, it's high grade, stage IV
The worst/most-miraculous part of genetic testing, after finding a pathogenic mutation, is that risk percentage. I know I have a 50-80% lifetime risk of breast cancer, but WILL I get cancer? When? Will my children get it, if they are carriers? Of course we cannot know those answers, not with the current technology. We are so lucky to be alive at this time, having the opportunity to asses our individual risks… But I feel like I’m scratching at a 10 foot deep concrete wall, trying to get to the answer of “will I get cancer”, on the other side.
I wish we could know more precisely, who will develop cancer and who won't. There are a few risk caculators available to help provide a more personalized risk. One good tool which takes into account family history, lifestyle/hormonal risk factors, hereditary mutation, and mammographic density is called CanRisk (www.canrisk.org/). This tool provides an estimated lifetime risk of breast and ovarian cancer.
This was very informative. Thank you for posting this. When it comes to blood vs salavia, is there a benefit over the other? We are testing our autistic child to see if there were any mutations for any of the chromosomes.
They are usually equally good options. For cancer genetic testing, there are a few small advantages of blood over saliva but I don’t know if these apply for genetic testing for autism. This is a good question for your genetic counselor or geneticist.
I recvd my myraid results. Negative for BRCA1 and 2... but a VUS for TP53. I had a mammo. First there was a small questionable area in my left breast. It was very small and could not tell the contents. Doc had me return in 6 months. The spot now had cluster calcification but again small area and wants me to return in 6 months. Im nervous as to if we are just waiting for it to spread or what.
I did gene test due to brest cancer. I have rad51d gene. i'm going under treatment no. My quetion is should I goes with double masactemey to avoid reccurent.
If someone has pathogenic on their report, but doesn’t have symptoms of that said mutation (lets just say BRCA2) does that mean that person has breast cancer or will soon be having breast cancer?
This is a common question. Having a pathogenic variant in BRCA2 (and almost all other genes associated with hereditary cancers) DOES NOT MEAN that you will for sure develop cancer. The risk is almost never 100% for any cancer. The risk of getting certain cancers (ex: breast, ovarian, prostate, and pancreatic cancer) is higher for BRCA2 mutation carriers compared to the risk in the general population and therefore there are recommended changes to management (such as more screening or preventative surgeries) but the risk is definitely not 100%.
That depends on the lab through which you were tested. I would recommend finding a certified genetic counselor to review your test results. If you indeed have a BRCA1 mutation then there are important personal and familial implications. You can find a genetic counselor at findageneticcounselor.nsgc.org or you can check out my website at appletreegenetics.com
I think you’re probably referring to a report from Myriad. For certain women, Myriad calculates the estimated lifetime risk of developing breast cancer. However, the risk calculator can only be used in certain situations. For example, this tool is not applicable for women who have already had breast cancer. Certain parts of the tool also can only be currently used for patients of European descent.
No, the risk score is separate from the genetic testing. If someone’s genetic test results are negative, and they are eligible for the risk score calculation (unaffected by cancer + European/Ashkenazi Jewish), then the risk score provides a refinement of their risk of getting breast cancer. Check out this link for more information: myriadmyrisk.com/riskscore/ I recommend meeting with a genetic counselor to go over your results in detail.
It really depends on which condition you are testing for. Most hereditary cancer syndromes only affect adults so usually waiting until adulthood is appropriate (although in certain cases we do recommend testing children). As a general rule, for most hereditary cancer syndromes, cancer screening starts in the 20s-30s so genetic testing can be considered as early as those ages.
