Mar 11, 2015 12:43PM - edited Apr 25, 2015 03:04PM by JohnSmith
I assume everyone here is doing comprehensive genetic tests, not just the simple BRCA gene test. It's only logical to look for genetic mutations when you have more than two primary cancers.
These genetic companies (Color, Ambry, Invitae, Myriad, GeneDx, etc.) all offer tests that look at roughly ~20 driver genes which are associated with BC. Like BRCA, I believe all of the genes are "tumor suppressor" (DNA repair) genes. If one of these genes is mutated, errors in DNA replication add up and tumors manifest. Beyond these simple 20 gene tests, are more robust tests that look at hundreds of genes. These tests are obviously more expensive. Science has not quite caught up with the genetic discoveries to determine the clinical relevance. We are moving in that direction though. The most extreme example of gene testing is when you get your full DNA genome tested, which examines all 19,000 protein encoding genes. In the year 2000, in collaboration with worldwide institutions, the first fully decoded human genome was published on the internet. Steve Jobs, x-Apple CEO had his genome decoded for $100,000 in the year 2006, hoping to discover the mutations causing his pancreatic cancer. Today, the cost has plummeted to ~$1,000.
As more people get tested, patterns emerge that shed insight into the initiation or driver events underlying tumor cell proliferation. This generation of genomics data is also referred to as "Big Data". The NCI (National Cancer Institute), private & public institutions, and corporations are scrambling to build the computer infrastructure (databases) to handle this "Big Data". As more people get their genome sequenced, the richer the data becomes... Ultimately the patterns emerge. With these patterns, scientists can develop drugs that target the discoveries in the genome. However, this can't happen efficiently (quickly) unless the computer infrastructure is built worldwide and the silos of data that exist in each location is shared. Sharing this genomic data is CRUCIAL!! Otherwise the patterns in the "Big Data" won't emerge and no drugs will be invented. So, what does this mean for you? If you have the financial means, I'd recommend, you get your entire DNA genome sequenced. Another way to get your full genome sequenced is through clinical trials (although I haven't researched which ones yet).Here's some of the companies offering genetic tests:
- Color Genomics: $249 Color Kit test. Link https://getcolor.com
- Myriad Genetics: myRisk Hereditary Cancer test. Link
- Ambry Genetics: Makers of BreastNext. Link
- Invitae: Women's Hereditary Cancers. Link (my wife did this one)
- GeneDx: Comprehensive Cancer Panel. Link