Background
"G84E mutation in the HOXB13 gene is the Company’s third cancer risk report clearance, following the FDA’s prior authorization for 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report."
Compared to the previous ones (BRCA1/BRCA2), the G84E test is significant to most people.
1) PREVALENCE:
The G84E variant is most prevalent in people with Northern European ancestry (up to 1 in 70). This variant has also been found in people of other ethnicities.
- Note that BRCA1/BRCA2 (selected variants) are only common among people of Ashkenazi Jewish ancestry.
2) SIGNIFICANCE:
Studies suggest that 33–53% of males with the G84E variant develop prostate cancer during their lifetime, compared to about 12% of males in the general population. In addition, males with this variant who develop prostate cancer also tend to do so at an earlier age.
- Note that the BRCA1/BRCA2 (Selected Variants) test only detects three out of more than 1,000 known BRCA mutations. This means a negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk.
References
So I saw from my professor's slides that sickle-cell anemia was elucidated to come from molecular mutation and we already know that. But my problem is how? As early as 1940s I am pretty sure we don't have PCR nor gene sequencing yet. What are the methods?
This seems like a serious endgame thing to pursue if so if players could keep a full list of all the mutations without any of their negative effects.
In May of 2021 I was diagnosed with stage 4 MBC with mets to the bones. I have a lot of family members, maternal and paternal, who have cancer. Many with more than one type of cancer. Genetic testing reveals that I have a CHEK2 gene mutation which allows cells with bad DNA to reproduce. Does anyone else have this mutation? Does it have implications on what type of treatments you receive? I've tried internet searches but find little helpful information.
Hey all, I'm Leo. 26 year old cis male caucasian living in Vancouver, BC.
My mother recently recovered from her Stage 0 breast cancer and found that she has a mutation of the CHEK2 gene, which increases her odds of getting cancer. There's supposedly a 50% chance that she's passed it on to her children, and recommends we get tested.
I don't have a family doctor, I usually just go to walk-in clinics. Would I go to them to get tested? Or should I just contact a specific office? My mother didn't know and I'm unsure what to do about this.
Many thanks!!
Does anyone know when/where/why CF mutation began.
Whaaaaat the heck is she talking about??She essentially said, “it’s not the 90s anymore, they can’t not know”.
Any researchers here (amateur or not), who understand what she means? How long does it take before finding a gene, being sure enough to publish, and then make the test commercially available?
I didn’t get kook vibes from her, maybe she was just lamenting about the pace of the research and I took her too literally. Maybe someone can clarify.
Also known as Methylenetetrahydrofolate reductase.
No way in hell do I remember this mouth-ful of a name, but the abbreviation looks like something that I'd say while stubbing my pinky toe, on the corner of the bed frame, after having JUST reminded myself that I need to avoid doing this very thing, inevitably forgetting the second I that walk into the bedroom. The abbreviation is just a little easier to remember 😅
From what I've read about it, basically it means I'm lacking an enzyme that plays a role in processing amino acids. Specifically important for a chemical reaction involving folate. (B9) Because of this, my body has a very difficult time turning the folic acid we get from foods and things into the methyl-folate that we need in order to gain actual benefits.
That's really all I know about this. I've asked most of the doctors that I've seen and they don't seem to know much about it. My psychiatrist mentioned something about my blood brain barrier being different than most others in these terms; most people have a wide open gate so things can pass through easily, whereas my gate is only opened a smidge so things don't become absorbed as well as they should. Although that seems very illusive how that actually affects me day to day.
I'm diagnosed with ADHD combined type, GAD, and recurrent major depressive disorder, in case that's relevant.
Has anybody else been told they have this? I know it's realistically fairly common, but I was told there are two types, one of which is common and might not even effect the person who has it. Where the other type is much less common and is much more likely to cause complications. Does anyone else have any information on this?
I didn't think this would end up being quite as long sooooo...
TLDR; Curious if anyone has any information or has been told they have the MTHFR gene mutation and if it effects them at all.
I just found out I have this mutation which my grandpa has at 80 he has lung blood clots.
Pretty sure this is why I have long covid at 12 months.
There is a decently high percentage of people who have this factor 2 mutation. I’d be willing to bet some good money a lot of people who have similar long covid have this mutation.
I’m 12 months in with intense chest pain, struggling to breath, POTS, kidney, colon, and stomach inflamation.
100k of doctor visits later and no good advice but I’m still getting more and more testing done…. Glad I have insurance.
Hello. My 12 yr old daughter has bad AWP and we just learned it is linked to CF, she is otherwise very healthy and we never expected this. I'm guessing maybe she's a carrier....pediatrician is sending her for a sweat test next week. I'm curious though...
If you have AWP as a symptom of CF mutation:
- do you have 1 (carrier) or 2 gene mutation?
- which gene mutation do you have?
Photo [AWP after 4 minute shower](https://i.imgur.com/GuS5Ndl.jpg
If humans live forever, will their appearance change due to the accumulation of gene mutations?
I've heard that folks will be angry if they say the mutants were 'created', which I understand as it is different from what the mutants of the comics are all about.
I propose that mutants have always been here, with mostly inert genes. Some people through the past have developed powers, but have been covered up by the government or lived in hiding.
This is until now. Remember, WandaVision retconned her origin and said her power was always within, but activated by the mind stone. As she is a mutant in the comics, we can probably safely say her mutation gave her connections to chaos magic.
I think Pietro was also an inert mutant, and was activated by the mind stone in a similar way. Mutants were in very small quantities, and active ones were even smaller, until one Thanos decided to use the Infinity Stones on earth.
This gives us the best of both worlds: explaining where mutants have been all this time and keeping the mutants as a select few, who were born with the ability to activate.
As opposed to the newer approach to cancer using "WILT 2.0": Thio by Maia Biotechnology that wouldn't require such a thing.
I'm saying we have a feasible solution to this issue already. Not that it's easy.
I'm still holding my breath for the chance to get a response about this from Aubrey himself. I suspect he has considered this before and has something to say about it.
I would in fact suspect that this is an issue but not one of the leading pressing ones, and we could in fact do without it until we're living to more like 150 years or more.
I'm a somewhat new player and I've been playing geneticist but one thing I can't figure out for the life of me is how to remove mutations from people in the scanner. The wiki says it's possible but I cant figure it out. Sorry for the stupid question but I need help
As the title says. Something EDS-like but my rhuematologist worked with hEDS patients says that its something in the same category but likely different in it's own right. It deeply affects hormones in a specific way (generally) supported by which blood tests show up as abnormal, among other uncanny symptoms and autoimmune markers, and my Rheumatologist has told me I am likely beyond community care and need to get in contact with either big name Universities, the NIH, or the Mayo Clinic.
I've just submitted applications this week, but I know It'll be a bit before much happens. I've been declining for a long time, but I'm not totally crippled compared to other cases. I was curious to see if there was an option to contact researchers. I know own that sometimes genetic researchers dedicate their thesis or research career to specific genes, so even asking some questions to an expert would be infinitely helpful. I just have no idea where to even start asking the right quarions to, and boy do I have them. I emailed my biology professor to see if I could get in contact with the University I went to. But even that has limited testing ability being suburban. I've studied so much publicly available research and even Google translate foreign research. I have a BA in biology. Can't work. I am desperate to make sense of what I studied. But I know this more complex than I could ever control. And the focus could be a bit unhealthy, but so is my body.
Do any of you have experience in contacting professionals for specific things like this that are beyond going to the doctor for? Even becoming a case study or straight up emailing someone my medical records to see if they could help?
It's just I feel like I have finally honed in on exactly where my life has been ruined, but there's not any treatment or direct answers. I know the generalities, and I also KNOW I could benefit from the right hormone treatment if just someone who understood what is happening. Is there crowdsourcing for rare and unknown disorders? Not even for money, but information?
I thought genetic testing would allow a diagnosis to finally be made But apparently uncertain significance means it can be found in people with marfan syndrome and alo the general population
This doesn't sit well with me because I get really bad chest pain There's a mitral valve prolapse , but my aorta is within normal limits
I can do all the hand signs,stretch marks in the lower area of my back, deep eye set, high arched palate, flat feet , crowded teeth
But I'm still undiagnosed And have not been given any medication to help with the pain
I just don't understand
It refers to a relatively common genetic mutation. MTHFR stands for methylenetetrahydrofolate reductase. It's a genetic mutation that may lead to high levels of homocysteine in the blood and low levels of folate and other vitamins.
What does it mean if one of the parents (CKC) of a puppy carries a copy of the variant for IVDD? Should we walk away from such a puppy?
I've had a couple of custom chapter lore ideas, and one of them is a Blood Angles successor from the 21th Cursed Founding as it would feel like a good place to do some tragically interesting and (hopefully) unique stuff with my army and I've had lot of fun with brainstorming. However, as I started collecting 40k during the 8th edition, pretty much all of my Marines are Primaris. When I started looking stuff up when starting out back then, there seemed to be common complaints about Primaris Marines being new and perfect in a way of not, at least back then, to anyone's knowing suffering from gene-seed flaws.
Has this changed now that Primaris have been out for few years now? From what I've seen at least stuff like Primaris Death Company Intercessors are a thing at this point. It would feel a bit disheartening to find myself limited in regards of storytelling options just because of the type of Space Marine army I began collecting. Granted, I do have a backup idea for culturally rather than genetically screwed chapter, but I would rather not needkessly throw away the latter either.
So I saw from my professor's slides that sickle-cell anemia was elucidated to come from molecular mutation and we already know that. But my problem is how? As early as 1940s I am pretty sure we don't have PCR nor gene sequencing yet. What are the methods?
