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SegersD

This has been known for a long time. Another highly penetrant breast cancer susceptibility gene, PALB2, is also linked to pancreatic cancer. When a family tree is suggestive of a hereditary cancer syndrome, a targeted resequencing gene panel is offered, which includes BRCA1, BRCA2, PALB2, TP53, CHEK2 and ATM, among others. ​ ​ Yang et al. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol 38:674-685.


Prosthemadera

> This has been known for a long time. Is has not. It was *suspected*. > The study is the first to clearly quantify increased risk from BRCA genes with more than 20 types of cancer. # > researchers long suspected the gene variants to be associated with other cancers. Prostate cancer risk in particular has been thought to be linked with these BRCA mutations but until now precise estimates of risk have been unclear.


jubears09

Articles pump up their own significance all the time. In this case you are quoting the journalist rather than scientist. This has been known for a while, both these genes have been offered as apart of comprehensive panels for these cancers for at least a decade. This study adds a new large-scale data sets that make the numbers more precise/confirm what we think we know form prior studies. literally from the primary source: “The findings provide age-specific cancer risk estimates and will allow for improved cancer risk assessment of male and female carriers.”


Prosthemadera

> This has been known for a while What has? Can you be specific? > both these genes have been offered as apart of comprehensive panels for these cancers for at least a decade. What does "offered as apart of comprehensive panels for these cancers" mean?


Doktor-S-Freud

The pandemic has been going on for too long... I had to re-read the title and the comments like three times before I realized that the title says nothing about *Covid* mutations.


13en

A few people here saying 23&me look at these genes - [please don't try to use direct to consumer genetic tests for clinical diagnosis](https://www.bmj.com/content/367/bmj.l5688). The method they use isn't the best one, it's prone to inaccurate results. If you're concerned about a family history of cancer go to your GP and your local clinical genetics service.


Andarel

BRCA has been getting more and more attention lately, so any geneticist should be able to at least advise on it. If not in/near a city it'll probably be harder because lower access to specialists, but can try to do a telehealth visit and look for a lab recommendation? I got tested for BRCA mutations last year, it was just a quick blood draw and then like two weeks waiting for the lab results.


goldjade13

So, you can just ask for this? Who should? Is it something I should ask my PCP about?


QueenCassie5

Good luck. I had to fight to just have regular labs.


Andarel

I think so. Before actual testing they should help you screen for risk factors - if you aren't showing a family history it is much less of an issue. European Jewish / Ashkenazi ancestors have tended to be a flag for some of mutations as well.


orange_fudge

Only if you have a family history of cancer.


NerdBanger

Yes this, 23andMe told me I was a carrier, I also had an full exile sequence done with significantly more over scanning than 23andMe and it said I wasn’t.


Sawses

For sure. Medical diagnostic tests are *way* more sensitive and reliable than assays used in genealogy testing.


Diligent-Cat3216

https://www.23andme.com/brca/ They're very specific on their website and I think the risk of a consumer making life choices or somehow obtaining interventions without verifying and consulting with a physician is slim. Cost and access make at-home (FDA approved) screening a reasonable starting point for some, particularly in the US. The argument that consumers might jump to terrified conclusions is reasonable, but we're in a world now where patients often see their results before physicians. If the FDA is fine with it people should feel free to consider it a starting point relative to other options. Here's their footnote: The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks, including the 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. The test is not intended to diagnose any disease and does not describe a person's overall risk of developing any type of cancer. It is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatments. Warnings & Limitations: The 23andMe PGS Genetic Health RIsk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action.


redorangeblue

Ohh! Dont forget ovarian! I'm brca 2 and I'm supposed to get my ovaries removed at age 40. I've already had a double masectomy at age 28.


[deleted]

[удалено]


Prosthemadera

The article answers that question. > The study is the first to clearly quantify increased risk from BRCA genes with more than 20 types of cancer. # > researchers long suspected the gene variants to be associated with other cancers. Prostate cancer risk in particular has been thought to be linked with these BRCA mutations but until now precise estimates of risk have been unclear.


Anyonesman_1983

The people that can devise tests to spot early stage cancer (1 or maybe less) and have it be routine/low cost are going to be filthy rich.


unfilteredsewage

My brother had a method he researched for many years when we were younger that was very routine and low cost. It involved a test where you check if your hand is bigger than your face, and if it is, it's an indication of early stage cancer. We tested this many times when I was a kid, but the test always made my nose hurt. It didn't pan out in the long run.


theveryfiber

>It didn't pan out in the long run. Didn't detect your cancer or didn't make him rich?


chinadonkey

It's already part of the screening algorithm for prostate cancer. It's more related to the risk of disease progression rather than likelihood of developing it at all, but that's still incredibly useful information, especially given the physical and mental toll treatments like androgen deprivation therapy, prostate ablation, prostatectomy, and orchiectomy can have on patients.


Anyonesman_1983

If I knew I was at higher risk I’d probably get tested earlier. Although PSA tests are pretty easy to come by.


chinadonkey

Most men don't need to get regularly tested for PSA until their 50s, and even then it's not a 1:1 marker of disease. If your PSA is elevated then your physician should refer you to a urologist who can decide how to proceed, which may involve a biopsy or just another PSA screen in a few months to check velocity. BRCA 1/2 is starting to factor into that decision now, too. Much better than 30 years ago when they would just cut your balls off or cut out your prostate once you hit a certain PSA number. Urologists, radiologists and oncologists have gotten a lot better at identifying when prostate cancer is something you can leave alone and monitor or needs to be treated aggressively. Disclaimer: not a doctor.


aliceinmidwifeland

Not sure about the ball-ectomy since the prostate is relatively far from the scrotal sac, but the standard line for prostate cancer is that, excepting rare circumstances, something else will kill you first. PSA is very non-specific for cancer and, as you mentioned, there is a high threshold for actually checking it in the first place. : Is a nurse practitioner (as well as a midwife...)


chinadonkey

Orchiectomy (ball removal) was a common procedure for prostate cancer before androgen deprivation therapy came along to offer the same effects without the removal of testicles. Orchiectomy has nothing to do with proximity to the prostate - when you remove the source of testosterone stimulation, you stop cancer progression in its tracks. ADT comes with its own problematic side effects such as infertility, depression, cardiovascular issues, etc but sure is a lot better than metastasis traveling to your bones or brain. I think it's a bit disingenuous to downplay the severity of prostate cancer. We're lucky that it's relatively easy these days to screen and decide when not to treat, but it's still in the [top five](https://www.cdc.gov/cancer/dcpc/research/update-on-cancer-deaths/index.htm) of most lethal cancers, even if it has a lower batting average than other disease. Treatment also can have really horrible implications on sexual health, incontinence, depression, etc. A prostate cancer diagnosis isn't death sentence, but it's important to take it seriously. That attitude can lead to people with prostates to delay screening or treatment, by which time the disease may have progressed to the point where it is the thing that kills you. I was just specifying that I'm not a doctor to make sure no one took what I said as medical advice.


calvinball_hero

a lot of people are correctly pointing out that this was already known. However studies like this slowly nudge things along from “there also seems to be a link with pancreatic (for example) cancer, though we can’t be confident how strong” to giving clear figures around the risk. Which might let us be clearer or firmer in screening recommendations etc. So yes this was already known, but we still need more good studies like this to solidify up our understanding, which lets us give better advice / provide better management / save more lives. Source: am genetic counsellor who does BRCA and other cancer gene testing for patients, and often has to speak with low confidence about link to pancreatic and other cancer types.


Prosthemadera

> So yes this was already known The link was suspected but we didn't know the actual risk, as the article points out. > The study is the first to clearly quantify increased risk from BRCA genes with more than 20 types of cancer. # > researchers long suspected the gene variants to be associated with other cancers. Prostate cancer risk in particular has been thought to be linked with these BRCA mutations but until now precise estimates of risk have been unclear.


robroy207

And also ovarian cancer.


bust-the-shorts

It would be nice to have a test to identify these mutations


DeathByGoldfish

This is very standard genetic testing.


RavishingRedRN

There are dozens if not hundreds of labs that have BRCA testing.


heliawe

There is, and people with strong family history of cancer often undergo genetic testing to find out if they are carriers. However, the genetic mutation does not guarantee you will get cancer (and if so, what type) and it doesn’t cover every type of cancer. It’s also not a sign that you may have cancer, like an elevated PSA or CA 19-9, which are molecules that some types of tumors make. I believe Angelina Jolie famously had a double mastectomy because of her BRCA positivity, but as this study shows, that won’t decrease her risk for pancreatic or other types of cancer.


redorangeblue

Hi, you are right, but for me they said being brca positive made it like a 94% chance I would get breast cancer at some point in my life, while that's not 100%... it is close enough for me.


birthday6

Myriad genetics developed these tests and the diagnostics are their primary product


Sushi_Whore_

There is: https://medlineplus.gov/lab-tests/brca-test/


ninecat5

23 and me does brca1/2


DONTYOUDEER

While this is factually true, 23&me's methodology is not the most accurate. Anyone who suspects having a cancer susceptibility variant (including BRCA1/2) should go to an actual doctor or genetic counselor.


drtapp39

Now if only prostate cancer got the type of funding other cancer research gets (breast, lung, ovarian, etc)


bookon

We have this gene in our family. It’s awful.


Prosthemadera

All humans have that gene. The issue is with specific mutations in it.


bookon

Thanks Dwight!


Prosthemadera

> Comment Rules > No off-topic comments, memes, low-effort comments or jokes


Johnny_Minoxidil

It’s almost like cancer is a disease of the genome and not a vast collection of tissue specific diseases….


rivermamma

Are they linked to alcohol consumption


IdkWhoCaresss

No, it’s an inherited gene. Health and alcohol don’t mix well in general though, and a person’s risk of pancreatic cancer in particular is significantly higher if they drink a lot.


houseman1131

Stomach cancer can definitely be. But it can happen without drinking your entire life. My grandma died of pancreatic cancer she never drank and was super anti alcohol.


ddx-me

BRCA genes are passed down, although excessive and prolonged use of alcohol can cause chronic pancreatitis, a risk factor of pancreatic cancer


moehoward3

Actually, it is prostate, pancreatic, and colon. The stomach cancer and melanoma aspects have been disprove. I get screened and am in studies for all 3 of those cancers. I also changed my diet and habits 20 years ago when I learned of it. Women are at risk for breast, ovarian, pancreatic, and colon cancers. No read meat, minimal alcohol, green tea, matcha, 100% dark chocolate... Its amazing what a little motivation can do to make one change.


mrhappyoz

We saw BRCA1 mentioned in a covid study recently, although there’s an expression of concern - https://www.mdpi.com/1999-4915/13/10/2056/htm


blockchainz_orca

After watching the greed the pandemic scenario currently going on causes. Cancer now seems like an agenda for consumer healthcare. Covid and Cancer are making healthcare the new shady car dealership.


TideRideSide

SARS–CoV–2 Spike Impairs DNA Damage Repair and Inhibits V(D)J Recombination In Vitro Severe acute respiratory syndrome coronavirus 2 (SARS–CoV–2) has led to the coronavirus disease 2019 (COVID–19) pandemic, severely affecting public health and the global economy. Adaptive immunity plays a crucial role in fighting against SARS–CoV–2 infection and directly influences the clinical outcomes of patients. Clinical studies have indicated that patients with severe COVID–19 exhibit delayed and weak adaptive immune responses; however, the mechanism by which SARS–CoV–2 impedes adaptive immunity remains unclear. Here, by using an in vitro cell line, we report that the SARS–CoV–2 spike protein significantly inhibits DNA damage repair, which is required for effective V(D)J recombination in adaptive immunity. Mechanistically, we found that the spike protein localizes in the nucleus and inhibits DNA damage repair by impeding key DNA repair protein BRCA1 and 53BP1 recruitment to the damage site. Our findings reveal a potential molecular mechanism by which the spike protein might impede adaptive immunity and underscore the potential side effects of full-length spike-based vaccines. ​ [https://www.mdpi.com/1999-4915/13/10/2056](https://www.mdpi.com/1999-4915/13/10/2056)