#Genetic Risk

[bpod-bpod]

Obesity-Cancer Link

A person carrying a mutation in either of the tumour suppressor proteins BRCA1 or BRCA2 is at increased risk of developing breast cancer. So too are people with obesity and diabetes. But whether obesity could exacerbate the risk in people with BRCA mutations was unknown. Recent research suggests that indeed metabolic and genetic risk can be cumulative. The image shows nuclei (blue) of milk duct cells from a person with a BRCA mutation with evidence of DNA damage shown in red. A study of such cells revealed the extent of DNA damage in BRCA mutation carriers positively correlated with body mass index. And blocking obesity related hormone signals in these cells could lessen such damage. The new findings suggest that while maintaining a low body weight is no guarantee of preventing breast cancer, addressing lifestyle, diet and metabolic health may be especially important for people already at increased genetic risk.

Written by Ruth Williams

Image from work by Priya Bhardwaj and colleagues

Department of Medicine, Weill Cornell Medicine, New York, NY, USA

Image copyright held by the original authors

Research published in Science Translational Medicine, February 2023

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[intelligentchristianlady]

A sign of things to come, I fear. (The original article is behind a paywall.)

[tenth-sentence]

Despite the increasing recognition of genetic risk, it is estimated that in the United States in 1979 and 1980 only half the pregnant women who were deemed medically appropriate for amniocentesis underwent the procedure, and it was being performed on only ten percent of the comparable group in Britain.

"In the Name of Eugenics: Genetics and the Uses of Human Heredity" - Daniel J. Kevles

[anotherwellkeptsecret]

My husband's reaction to having a girl was pretty cute. He also said: "I'm so lucky, I get two of you!"

[getvalentined]

I made this! It's based on an older shipping meme but I felt like an OT3 version was needed.

I don't do enough valenstrifesodos stuff, but these three are so compatible with one another it's bonkers. Yes they are wearing each other's colors thank you very much for noticing.

Vincent is actually the tallest, but Genesis wears heels so you can't tell, and Cloud is...short. It's fine.

Template under the cut for anyone who wants it!

Two versions, one with transparency and one without, for however you want to fill it out.

[corvidaedream]

me to my coworkers: when you request time off, you should not give the assistant dept head any additional info on why you're requesting it, it's none of her business and may be used against you

me requesting time off after my requests keep getting denied/overlooked the past few months: telling kelly explicitly that this one is an oncology appointment bc i want her to feel bad :)

[venacoeurva]

The unemployed vs. employed brain is wild with me it's just "AGH I AM INCAPABLE OF FUNCTIONING AS AN ADULT AND HUMAN" to "Oh wait I have Skills"

[cakemoney]

starstruck odyssey is so stressful for me, someone whose ambient stress about money was such an overwhelming factor of how i live my life that i got two business school degrees. like i majored in this shit becuse of how anxious i get about it. and now i get to watch blorbos on my shows get anxious about it

[astriiformes]

Oh boy things are moving again with top surgery scheduling. I don't have an exact date yet because the two surgeons have to coordinate with each other but. Can pretty confidently say it's probably happening in late September, which is a lot to process.

[thedawningofthehour]

I had a dream where Bella was babysitting the Mutant Mayhem turtles (I haven't even seen MM but okay) and took them to like a bath house? And Raph was being a little shit to her and she wasn't having it, I remember that. And then she lost one of them on an elevator and had to run up and down the stairs trying to figure out where they got off.

And honestly that part is correct if this was a sitcom there would absolutely be an episode where Bella lost one or all of the kids and had to scramble to find them before their dads came back.

[cbirt]

Massachusetts Institute of Technology (MIT) computer scientists developed iPGS, a model that gives accurate polygenic score calculations for the genetic makeup of individuals belonging to diverse ancestral backgrounds. Diversity in human beings can be attributed to the 0.1% of DNA that varies across individuals. It determines the phenotypes that would be expressed as well as the risk of contracting or developing certain diseases. The overall effect of gene variation can be assessed by the generation of ‘polygenic scores’ by statistical models. However, one major problem with such models is that the datasets used to train them have been largely based on people of European descent. ‘Admixed’ is a term used to describe individuals whose chromosomes have been inherited from a mixture of ancestries and populations that were previously isolated. 

To perform disease risk assessments for people in an inclusive manner and to ensure equal health opportunities for all regardless of their ethnic background, it is imperative to either upgrade the datasets used by existing models or to develop new ones entirely, which is exactly what scientists attempted to accomplish.

Scientists achieve this feat by developing a model that uses genetic information obtained from people who come from varying ancestries all around the world. The iPGS model can accurately predict the possibility of diseases caused by various expressed genetic traits, even for underrepresented communities. According to Manolis Kellis, a professor of computer science at the Computer Science and Artificial Intelligence Laboratory (CSAIL) of MIT, the model was 60% and 18% more accurate than previous models when making predictions for people that come from African and admixed ancestries, respectively. In addition to enhancing public health policies and results for those who are at risk, the researchers believe that widespread implementation of this approach will make genome sequencing a more widely available and accepted procedure worldwide. Public users and members of the scientific community can access the data collected for this study.

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[daredevils-advocate]

I'm getting my wisdom teeth removed today and the true torture of this is that my family is drinking coffee and eating breakfast around me and I can't have any because they have to put me under total anesthesia in 3 hours

[mannanerz]

drew this after seeing a post by @blueflyingturtleontheway

the post was made forever ago but it popped up on my for you page today and i really wanted to draw it.

i imagine it would go like this:

“yea they’re brother and sister but they still got together and had my dad so yeah. but its okay tho cuz like that’s normal in my family lol”

everyone is like: 🤨⁉️

(p.s. im not even sure that the tree i did is remotely correct so forgive me im running 9th grade english class knowledge and google for the relationships of everyone in that chaotic tree)

[mommalosthermind]

I’ve been being told, since the tender age of 18, that my family history means I need to see a breast specialist immediately. That I should get genetic testing to better pinpoint my odds.

I’ve been referred to the specialists three times. 20, 25, and now.

The first time, I was told my family history was irrelevant, I was too young and wasting their time.

The second time, I was told no. That I should bully my fourth-grade-drop-out, Tylenol is an Unnatural Evil believing idiot of a mother into getting tested because it would be less expensive for them to do a single test on her, and then use those results for her children, than to do a test for me, for me to use on my children.

The fact that she laughed at me apparently just meant that I hadn’t explained it to her properly. A good mother, you see, would come in to get tested. You know. Like I was trying to do.

I’m mid-thirties. Every Gyno I’ve ever seen has expressed concern about breast cancer purely based off family history.

Gyno sent me over again, armed with yet more family history, yet more cancer found in the last few years.

Specialist finally let me in the building. Specialist took one look at my history and went, why didn’t you start seeing us at 25? OR before! You should have been getting this done for ten years at least! Don’t you know your odds, as of this paperwork alone, are double the average American woman? You should be getting a professional breast exam every six months!

Because You Would Not Let Me. YOUR people looked at that same paperwork and decided it wasn’t worth their time. I wasn’t worth the money.

Had my first mammogram today.

It took nearly 16 years, though.

And what kills me, I think, other than the fact that the mammogram itself took like ten minutes? What kills me is—

My partner suddenly realizing that all those times I’ve brought up cancer it was a lot more of a concern than he realized. What do you mean she said your risk on paper is probably above 30? That’s so high? Why didn’t the specialist see you earlier?

Because when he goes to the doctor, they just nod.

When he goes, they make all the phone calls. He gets to see the allergist. The nutritionist I was told no for, he’s already made an appointment for.

I get gentle hedging about how maybe I should lose a few pounds. I get laughed out of the office. I get baffled looks when I ask about early onset arthritis due to the Lyme disease and then nothing.

It took me 16 years of pointing at six different family members with four different types of cancer—two of them more than one! At the same time!— to get what should be basic care.

My partner is speed-running all those years of my quiet worry. All the things that could have gone wrong. All the things that can still go wrong, but now with the safety net of being cared for. All the worry I’ve been carrying about what I may have passed onto my kids.

And it took ten minutes in a pretty pink room.

[benetnvsch]

im such a guy who needs a tail to wag when happy,,, nonverbal communication goals,,,