Beyond BRCA: A Broader Genetic Lens on Breast Cancer

Updated Oct 5, 2025 | 05:44 PM IST

SummaryWritten by Dr. Syeda Zubeda, Medical Geneticist and Senior Genetic Counselor, Strand Life Sciences

(Credit-Canva)

When people hear about “breast cancer genes”, BRCA1 and BRCA2 are usually the first names that come up. These two genes are important; harmful changes or mutations in them can greatly raise the risk of breast and ovarian cancer.

But the BRCA genes are only a part of the breast cancer puzzle. Thanks to advances in genetic testing, doctors now understand that there are several other genes that can affect breast cancer risk. Looking at this wider set of genes, and not just BRCA, can give patients and families a more complete picture of their health and prevention or treatment options.

Other Genes That Matter

PALB2: This gene works closely with the BRCA2 gene on repairing damaged DNA. Some harmful mutations in PALB2 can raise the risk of breast cancer almost as much as BRCA mutations do. Wemen with these mutations are often offered extra screening.

CHEK2

This gene regulates cell division. Some mutations in the CHEK2 gene can increase the risk of breast cancer, though usually not as strongly as mutations in the BRCA or PALB2 genes. People with CHEK2 mutations may need to start screening earlier (around 40 years of age) or have more frequent mammograms and magnetic resonance imaging (MRIs).

ATM

This gene is involved in repairing damaged DNA. Harmful mutations in the ATM gene can raise breast cancer risk, usually to a moderate degree.

TP53, PTEN, AKT1

Although mutations in these genes are rare in breast cancer cases, they are important, as such mutations not only increase the risk of breast cancer but also raise the chances of other cancers (like stomach, thyroid, or colon). Families with these mutations often need personalized screening plans.

Why These Genes Matters

Looking beyond the BRCA genes has real benefits:

Better screening and prevention

If you carry a high-risk mutation (in the PALB2 or TP53 genes), doctors may recommend breast MRIs every year starting at a younger age (as early as 25–30 years), or even discuss preventive surgery.

With moderate-risk mutations (like in the CHEK2 or ATM genes), you might not need preventive surgery, but extra screening could help catch cancer earlier.

Treatment options

Some genetic changes can affect how a tumor responds to certain drugs. For example, cancers linked to BRCA or PALB2 mutations may respond well to PARP inhibitors, a type of targeted therapy.

Knowing your genetic status can help doctors choose treatments that work best for your cancer type.

Family impact

If you test positive for a mutation, your relatives can also be tested. If they carry the same mutation, they can take steps early, like increased screening or lifestyle changes, to detect cancer early, if it occurs.

Things To Keep In Mind

Uncertain results: Sometimes genetic testing can find a “variant of uncertain significance” or VUS. This means that it’s not clear if the mutation is harmful or not based on scientific data worldwide. These results can be confusing, but most VUS findings turn out not to be harmful over time.

Different risks

Not all gene mutations carry the same level of risk. Some are high, some moderate. Doctors combine genetic results with family history and personal health factors to make recommendations.

Ongoing updates

Science is moving quickly. What’s considered uncertain today may be better understood in a few years. Staying in touch with your doctors and genetic counselors can keep your healthcare plans up to date.

What Can You Do?

Ask about genetic testing if you or your family members had breast cancer at a young age, ovarian cancer, male breast cancer, or multiple relatives with breast, prostate, or pancreatic cancer, ask your doctor about genetic risk and testing.

Don’t stop at testing for BRCA genes: Multigene panels are now widely available and can uncover risks that single-gene BRCA tests may miss.

Get genetic counseling: A trained and BGCI certified genetic counselor can explain what your results mean for you and your family, help manage uncertainty, and guide decision-making.

Stay proactive: Even if you don’t carry a harmful mutation, healthy lifestyle choices and regular screening are powerful tools for lowering the risk of cancer.

The Bottom Line

BRCA1 and BRCA2 genes are only 2 chapters of the hereditary breast cancer story. Genes like TP53, PALB2, CHEK2, ATM, and others also play an important role. Broad genetic testing can give a fuller picture of risk, guide treatment, and empower families to take preventive steps.

Knowledge is power—and by looking beyond BRCA, patients and families can make more informed choices, protect their health, and support one another.

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Health Warning For Vitamin D Users: These 4 Symptoms Are A Red Flag

Updated Jan 21, 2026 | 09:00 PM IST

SummaryThe NHS advises taking vitamin D during winter, but experts warn that too much can cause troubling symptoms. Here’s when to stop supplements and what warning signs to watch for.
vitamin d health warning

Credits: AI Generated

The NHS is urging millions of people across the UK to take vitamin D to support overall health, but experts say certain symptoms should not be ignored. In a post shared on X, an NHS spokesperson said: “From October to March we can’t make enough vitamin D from sunlight, so to keep bones and muscles healthy, it’s best to take a daily 10 microgram supplement of vitamin D. You can get vitamin D from most pharmacies and retailers.”

While health professionals agree that vitamin D supplementation is important for many people, especially during the colder months, they stress that it should be taken carefully.

Why Does Sunlight Matter For Vitamin D Production?

Sunlight plays a crucial role in how the body makes vitamin D. UVB rays trigger a reaction in the skin that converts a compound called 7-dehydrocholesterol into vitamin D3. This form of vitamin D is essential for absorbing calcium, maintaining strong bones, and supporting the immune system.

As sunlight in the UK is not strong enough between autumn and early spring, the government advises everyone to consider taking a daily supplement of 10 micrograms, or 400 IU. Relying on food alone is often not enough to meet daily needs during this period.

Expert Warns Too Much Vitamin D Can Backfire

Biomedical scientist Tobias Mapulanga, who co-founded Repose Healthcare, has warned that some people may be taking more vitamin D than their bodies can handle. He explained that as winter advice circulates, many people add tablets, sprays, or gummies without realising they are doubling up.

He said that symptoms such as constant thirst, needing the toilet more often, nausea, stomach discomfort or constipation, headaches, mental fog, and new aches or cramps can appear soon after increasing vitamin D intake. These signs are often mistaken for winter illnesses, when they may actually point to excess supplementation.

“The message is simple,” he added. “The right dose helps, but taking too much can leave you feeling worse, not better.”

High-Dose Supplements Raise Safety Concerns

Research shows that 42% of UK adults reported taking vitamin D supplements in the past year. However, an investigation by Which? found some vitamin D products on sale contained doses as high as 12.5 times the recommended safe upper limit.

NHS England also logged 42 incidents over a two-year period where high-strength vitamin D was given more often than intended. Some of these cases led to hospital treatment for hypercalcaemia, a condition caused by too much calcium in the blood, according to reports from Bristol Live.

Stop Taking Vitamin D If You Notice These Warning Signs

1. Ongoing thirst and frequent trips to the toilet

If you suddenly feel unusually thirsty or find yourself urinating more often after starting vitamin D, it may be a sign you’re overdoing it. Cut back to a single 10 microgram tablet and stop using any additional vitamin D products if this happens.

Too much vitamin D can disrupt fluid and salt balance in the body, leaving you dehydrated and running to the bathroom. Check labels carefully and remove multivitamins, sprays, gummies, and fortified foods or drinks that also contain vitamin D.

Keep water close by and sip regularly while your body settles. Stay well below the upper limit of 100 micrograms, keep just one product visible, and put the rest out of sight to avoid accidental doubling.

2. Nausea, excessive burping, or stomach discomfort

Feeling sick, bloated, or dealing with an upset stomach after taking vitamin D suggests it isn’t agreeing with you. Try taking your supplement with a full meal and switch from sprays or gummies to a plain D3 tablet if symptoms persist.

Food helps protect the stomach lining, while sprays and gummies often contain sweeteners or flavourings that can irritate digestion. Choose a simple cholecalciferol tablet with minimal ingredients and reduce the dose to 10 micrograms.

Avoid fortified shakes or energy drinks until your stomach feels normal again.

3. New muscle cramps or bone aches

If you notice more aches in your bones or frequent muscle cramps after starting vitamin D, take it as a signal to reassess. Lower your dose and focus on staying well hydrated while eating mineral-rich foods.

Excess vitamin D can interfere with mineral balance, which muscles rely on, and dehydration can make cramping worse. Drink water with meals and include yoghurt, leafy greens, beans, and bananas in your diet.

Gentle stretching and short walks can ease stiffness. Stick to one 10 microgram supplement and avoid adding anything else until symptoms improve.

4. Brain fog or headaches

Trouble concentrating or recurring headaches can be signs that your vitamin D intake is too high. Replace multivitamins or high-strength products with a single 10 microgram D3 tablet.

High doses can raise calcium levels, and extra additives found in combined supplements may affect clarity of thought. Choose a product that contains only cholecalciferol and basic fillers.

Take it with food at the same time each day for consistency and better digestion. Avoid combined vitamin A and D products and focus on one simple supplement.

To prevent accidental overuse, review everything you take that contains vitamin D. Spread out all tablets, sprays, gummies, and fortified foods, and read each label carefully. Convert IU to micrograms by dividing by 40 to make totals easier to track.

Discard any extras and stick to one daily 10 microgram source. Keep a note of symptoms such as thirst, frequent urination, stomach upset, cramps, or mental fog to see how they relate to your intake.

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If You Take Omeprazole Or Metformin, This Common Deficiency Could Be Affecting You

Updated Jan 21, 2026 | 07:00 PM IST

SummaryVitamin B12 deficiency can develop slowly in people taking medicines like omeprazole or metformin. A pharmacist explains the warning signs, risk groups, and when to get tested.
omeprazole metformin warning

Credits: Canva

A pharmacist has warned that people taking certain long-term medications should stay alert to subtle symptoms such as numbness, tingling, and an unusually red or sore tongue. According to Superdrug Pharmacy Superintendent Niamh McMillan, as per Mirror, the signs are often easy to dismiss and may quietly develop over time in people with low vitamin B12 levels.

Pharmacist Warns Certain Medicines May Trigger Overlooked Vitamin B12 Symptoms

McMillan explained that vitamin B12 plays a vital role in keeping nerves and blood cells healthy. A shortage can build up slowly, which means early symptoms are often brushed aside or mistaken for everyday fatigue.

She said common warning signs include persistent tiredness or weakness, breathlessness, headaches, dizziness, pale skin, and a sore or red tongue. Some people may also notice pins and needles or numbness in their hands or feet, memory lapses, trouble focusing, or changes in mood such as feeling low or unusually irritable.

Who Is Most At Risk Of Low B12 Levels?

Vitamin B12 deficiency occurs when the body either does not get enough of the vitamin from food or struggles to absorb it properly. McMillan noted that people following vegetarian or vegan diets are at higher risk, as B12 is naturally found mainly in animal products.

Older adults are also more vulnerable, as are people with digestive conditions such as coeliac disease or Crohn’s disease. In addition, those taking certain medications may be affected, particularly long-term acid-reducing drugs such as proton pump inhibitors or diabetes medication like metformin.

Dietary Sources That Help Maintain B12 Levels

To reduce the risk of deficiency, McMillan advised including reliable dietary sources of vitamin B12 wherever possible. Foods naturally rich in the vitamin include meat, fish, eggs, milk, cheese, and yoghurt.

For people who avoid animal products, fortified foods such as some breakfast cereals and plant-based milks can help support intake. In some cases, supplements may also be useful, especially when diet alone is not enough or absorption is impaired.

When To Seek Medical Advice?

McMillan stressed that anyone experiencing symptoms or falling into a higher-risk group should speak to a healthcare professional. A simple blood test can measure B12 levels, and early treatment can help prevent lasting nerve damage or other complications.

She added that Superdrug Health Clinics offer a Vitamin B12 Injection Service at selected UK locations, following clinical assessment or confirmation of deficiency.

How Medications Can Interfere With Vitamin B12?

Several commonly prescribed medications can affect how the body absorbs or uses vitamin B12. This often happens because the drugs alter conditions in the stomach or gut, making it harder for B12 to be released from food or absorbed into the bloodstream.

Medications Linked to Vitamin B12 Deficiency

The most frequently associated medications include:

  • Proton Pump Inhibitors (PPIs): such as omeprazole, esomeprazole, and lansoprazole
  • H2 Blockers: including famotidine and cimetidine
  • Metformin
  • Oral contraceptives, although experts continue to debate whether these cause a true deficiency
  • Colchicine, used to treat gout and known to damage the intestinal lining
  • Anticonvulsants, including drugs like phenytoin and phenobarbital, which can affect B-vitamin metabolism
  • Nitrous oxide, commonly known as laughing gas, which can rapidly inactivate existing B12 in the body
  • Antibiotics, particularly long-term use of chloramphenicol or neomycin, which can disrupt gut bacteria involved in B12 processing

What To Do If You Take These Medications Long Term?

Experts advise people on these medicines not to stop treatment without medical guidance. Instead, they recommend staying alert for symptoms such as fatigue, tingling or numbness in the hands or feet, brain fog, or a sore, red tongue.

Getting tested is also key. A straightforward blood test can confirm B12 levels, and many doctors now suggest regular screening for patients who take metformin or proton pump inhibitors over extended periods.

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Ending Alzheimer’s Could Start With Fruit Flies, UK Scientists Suggest

Updated Jan 21, 2026 | 08:00 PM IST

SummaryUK scientists say research on fruit flies could shed light on how Alzheimer’s and other neurodegenerative diseases develop, offering fresh clues into genetic mutations and nerve damage.
alzheimers disease fruits

Credits: Canva

UK researchers say fruit flies could help unlock why devastating brain and nerve conditions such as Alzheimer’s, Parkinson’s and motor neurone disease develop, despite decades of medical research. Scientists have known for years that many neurodegenerative disorders are linked to genetic mutations. What has remained unclear is how those mutations actually trigger disease inside the nervous system.

According to the Mirror, new findings published in the journal Current Biology suggest a breakthrough may lie in studying fruit flies, insects whose genes behave in strikingly similar ways to those in humans.

UK Scientists Say Fruit Flies May Hold Answers to Neurodegenerative Diseases

The study was led by Professor Andreas Prokop from the University of Manchester, who examined the role of so-called motor proteins using fruit flies as a model. These proteins are responsible for transporting materials inside nerve cells. Fruit flies are widely used in genetic research because experiments can be carried out quickly and at low cost while still offering insights relevant to human biology.

Professor Prokop explained that many human genes linked to neurodegenerative disease have close equivalents in fruit flies, performing nearly identical roles in nerve cells.

Axons and the Role of Motor Proteins

The research focused on axons, the long and fragile nerve fibres that act like cables, carrying messages between the brain and the rest of the body to control movement and behaviour. For axons to stay healthy, motor proteins must move essential materials along internal tracks called microtubules.

These motor proteins are vulnerable to genetic mutations, which can interfere with their function and ultimately cause axons to break down.

Why Different Mutations Cause Similar Damage

Professor Prokop said scientists have long struggled to explain why both disabling mutations, which reduce motor protein activity, and hyperactivating mutations, which keep them constantly switched on, can result in very similar forms of neurodegeneration.

To investigate this puzzle, his team studied fruit flies carrying different types of motor protein mutations.

What Happens Inside Damaged Nerve Fibres?

The researchers found that both disabling and hyperactivating mutations lead to the same physical damage inside axons. Healthy microtubules, which normally form straight bundles, begin to decay and curl into disorganised structures. Professor Prokop compared this change to the difference between dry spaghetti and overcooked spaghetti. This curling is a clear sign that axons are breaking down.

Transport, Damage and Repair Inside Axons

Axons rely on a complex internal system to survive over time. Materials must be transported from the nerve cell body to distant parts of the axon, a process carried out by motor proteins moving along microtubules.

Professor Prokop explained that if mutations prevent motor proteins from transporting cargo, axons begin to decay. Many inherited neurodegenerative diseases can be traced back to this failure. However, the study also showed that hyperactivating mutations cause a different but equally damaging problem.

Why Too Much Activity Can Be Harmful?

When motor proteins are constantly active and unable to pause, they generate excessive wear and tear along microtubules. Even under normal conditions, transport damages microtubules over time, much like traffic creates potholes on roads. This damage usually triggers repair and replacement mechanisms inside the cell.

The researchers found that when motor proteins are either overactive or when repair systems fail, the balance between damage and repair breaks down. The result is microtubule curling and axon decay.

The Role of Oxidative Stress

At first glance, disabling mutations might seem less harmful because fewer motor proteins mean less internal traffic and therefore less damage. However, the researchers discovered the opposite effect.

Reduced transport means vital supplies fail to reach the axonal machinery. This shortage triggers oxidative stress, a harmful condition linked to cell damage. Oxidative stress, the team showed, disrupts microtubule maintenance and leads to the same curling seen with hyperactive motor proteins.

Based on these findings, Professor Prokop and his team proposed what they call the dependency cycle of axon homeostasis. This model suggests that axon maintenance depends on motor proteins and microtubules, but those same systems rely on ongoing transport to function properly.

If mutations interfere with this balance, either by causing oxidative stress or by upsetting the repair process, the entire cycle collapses.

Professor Prokop said parallel research from his group strongly supports this model. He added that because the genetic foundations of fruit flies and humans are surprisingly alike, it is highly likely that the same mechanisms operate in people. According to Professor Prokop, there are already strong signs that these findings apply beyond fruit flies and could reshape how scientists understand and eventually treat neurodegenerative disease.

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