Tag Archives: chance

Rare Gene Increases Cancer Risk: 100% Chance of Developing Cancer Explained

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Tracy Hutchinson has a rare mutation in the TP53 gene

Tracy Hutchinson

When several family members were diagnosed with cancer simultaneously, I began to suspect a hereditary issue. In 1990, my sister Rebecca and I were both diagnosed with acute lymphoblastic leukemia—she was 21, and I was just 14. During her intense chemotherapy treatment, our mother was also diagnosed with breast cancer.

Tragically, Rebecca passed away in 1994, and not long after, my father was diagnosed with colon cancer. As he was receiving treatment, my grandmother was diagnosed with cancer in her other breast, which she survived, only to be later diagnosed with esophageal cancer in 2009. Despite undergoing major surgery, my father’s cancer recurred, and he succumbed to the disease six weeks later.

In 2020, when my other sister was diagnosed with rapidly progressing triple-negative breast cancer, I thought, “Oh my God, something is definitely wrong.” She was tested for the BRCA mutation and results showed no BRCA1 or BRCA2 mutations. Subsequently, she was tested for a rarer mutation in the TP53 gene. This mutation is linked to a significantly heightened cancer risk. Women with this mutation have an almost 100% likelihood of developing some form of cancer during their lifetime. This genetic condition is known as Li-Fraumeni syndrome, which indicates that the TP53 genes, responsible for tumor suppression, are not functioning properly.

When my sister suggested I get tested, I questioned, “What is Li-Fraumeni syndrome?” I had never heard of it before. Discovering my positive test result was emotionally devastating, but I agreed to undergo testing to support my sister during this challenging time.

In 2022, at the age of 47, I received my positive diagnosis. Surprisingly, I felt a sense of comfort knowing that I had answers regarding the struggles my family faced. However, this revelation was deeply personal; for example, my brother opted not to be tested.

After my diagnosis, my life transformed completely. With Li-Fraumeni syndrome, thoughts of cancer are ever-present. Within months of learning my result, I underwent a preventive double mastectomy. Early-stage cancer, specifically ductal carcinoma in situ, was detected in my left breast after the surgery.

Living in Sydney, I enrolled in an Australian clinical trial investigating the use of annual full-body MRIs for early tumor detection in individuals with TP53 mutations or other cancer-associated genes. In 2022, I welcomed my first baby, but during my second year, a 9-millimeter meningioma was discovered—fortunately benign but nonetheless terrifying.

I receive full-body MRIs annually, but my anxiety peaks around July, as I wonder if this will be the year things take a turn for the worse. Participating in this study provides some reassurance, as it aims to catch cancer at an early, treatable stage. My sister, who survived breast cancer, also undergoes yearly MRIs.

In addition to full-body MRIs, I have annual skin exams and blood tests managed by a dermatologist. Bi-yearly endoscopies and colonoscopies are essential; during one procedure, they discovered and removed a polyp in my intestine and atypical cells in my esophagus, which are now closely monitored. I’m vigilant about any irregularities in my body—any sudden shoulder pain sends my anxiety into overdrive.

My geneticist speculated that our mother may have had a spontaneous mutation in the TP53 gene, instead of it being inherited. As neither my sister nor I have children, the risk of passing this mutation on is nonexistent.

My partner has been incredibly supportive. After my diagnosis, he encouraged me to pursue whatever necessary actions I needed to take. When I opted for a double mastectomy without reconstruction, he reassured me, saying my scars tell the story of my journey.

I strive to maintain a positive outlook despite the challenges, aware that everyone faces their own struggles, whether chronic illnesses or hidden mental health battles. For instance, my sister-in-law recently suffered a stroke. We each carry our own burdens, visible or not, and it’s crucial to be compassionate toward one another; life isn’t always picture-perfect.

As told by Alice Klein

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Source: www.newscientist.com

Dark Plants as Alternatives to Street Lights? Not a Chance!

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These succulent plants emit a shimmering glow after being infused with phosphor particles that absorb and gradually release light.

Liu et al., Matter

There are some product ideas that elicit just a sigh, while others I genuinely dislike. The fluorescent plants created by injecting leaves with glowing substances definitely fall into the latter category for me.

These plants are developed by researchers at the Agricultural University of South China. Recent research indicates that these plants exhibit “extraordinary brightness” and represent a move towards a “sustainable and environmentally friendly plant-based lighting solution.”

The quest to create glowing plants has spanned decades. A notable challenge is intensifying their glow for visibility. A Kickstarter project in 2013 amassed nearly $500,000 but ultimately failed to deliver on its promises.

Last year, US biotech firm Light Bio introduced the Firefly Petunia, the first genetically modified plant available for retail. They claim the plants shine “like moonlight”, but judging by social media images, it seems we’re far from a full moon effect.

The difficulty in producing glowing plants stems from plants deriving energy from light, but photosynthesis is notoriously inefficient. Estimates suggest most plants capture under 2% of the light that strikes them, and much of that energy is used for growth, leaving little to emit light.

This limitation means that energy captured from photosynthesis can never produce a plant bright enough to replace street lights. This inefficiency likely explains why most animals harness energy from plants rather than growing under the burden of photosynthesis (and also why placing solar panels on farmland promotes crop transformation into biofuels).

Consequently, several research groups have attempted to integrate sustained phosphors directly into mature plants. These compounds mimic the glow of stars in the night sky and can emit light after being charged.

Certain sustained phosphors can be significantly more efficient than photosynthesis, letting more light escape from an equal input. However, even distribution within the leaves poses challenges. Recently, Chinese researchers discovered that this kind of distribution could be more easily achieved in succulents like Echeveria “Mebina,” enabling vibrant fluorescent plants of various hues through manual injection of phosphors into each leaf.

This approach feels like a superficial gimmick. I won’t deny my interest in genuinely glowing plants. While you can find the Firefly Petunia available outside the US, I view giving plants a shine through direct injection of glowing substances as a shortcut. At the very least, this glow fades as the plants mature. There’s also a concern about possible contamination when these plants are disposed of.

While this practice may not be as unethical as dyeing aquarium fish, it’s certainly less appealing than dyeing roses. (And no, I’m not having an Alice in Wonderland moment—painted roses do exist.) Furthermore, the team’s paper does not address the environmental or safety implications of plants containing elevated levels of phosphor. I reached out to the researchers for clarification but had yet to receive a response at the time of writing.

If scientists could genetically engineer plants to produce their own biodegradable phosphors that last, this could turn into an entirely different scenario. This capability could even enhance photosynthesis efficiency. Allowing plants to temporarily “store” light would help mitigate fluctuations in light levels, converting unusable wavelengths into usable ones, thereby maintaining photosynthesis into the night. One day, entire fields might illuminate the darkness.

For now, I don’t wish to see a synthetic glowing plant derived from phosphor injections hit store shelves. I hope that never happens, yet I worry there’s a chance it might.

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Source: www.newscientist.com

The Potential Risks of Cryonics: How They Could Impact Your Chance at Immortality

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In these turbulent times, there is a growing interest in cryonics as a way to freeze and preserve human remains for potential revival in the future when medical technology is more advanced.

The concept is intriguing – it’s like a savepoint in a video game where you can “undo” your life experiences and start anew when revived.

Despite the increasing enthusiasm for cryonics, there are significant challenges that need to be addressed before it can be considered a viable option.

Freezing Limitations

Freezing living organisms at ultra-low temperatures often results in irreparable damage, leading to death. The human body, being primarily composed of water, cannot withstand the formation of ice crystals that can cause extensive harm to cells and tissues.

While anti-freeze agents can help mitigate this damage at a cellular level, the complexity of the human body poses a greater challenge when trying to freeze it effectively.

Freezing the human body for cryonics often causes irreversible cell damage, especially in the brain, making revival virtually impossible with current technology. – Photo credit: Getty

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Freezing and thawing the human brain poses a particularly daunting task due to the complexity and vulnerability of brain cells. Neurons, being highly energy-dependent and structurally intricate, are difficult to preserve and repair through cryogenic processes.

Challenges with Brain Preservation

Many proponents of cryonics opt to freeze only the head or brain under the assumption that advancements in medicine can facilitate the replacement of the rest of the body. However, reanimating a frozen brain presents significant hurdles.

Neurons, the building blocks of brain function, are fragile and sensitive to damage. The intricate connections between neurons, which form the basis of memories and identity, are easily disrupted during the freezing process, making reconstruction a monumental task.

Even if future technologies can restore neuronal connections, the complexity of mapping these connections accurately without prior brain scans poses a significant challenge.

Ultimately, while cryonics offers hope for the future, it also requires a substantial amount of optimism given the current limitations and uncertainties surrounding the process.

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Source: www.sciencefocus.com