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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Is There A Link Between Your Kidney Health And Other Chronic Diseases? Lancet Study Says Yes

Updated Dec 7, 2025 | 11:31 AM IST

SummaryA new Lancet study links rising chronic kidney disease to conditions like diabetes, high blood pressure and obesity. CKD often goes undetected until advanced, increasing risks of heart disease and other complications. Experts urge regular screening, especially for high-risk groups, and note that newer treatments can help slow disease progression.
Is There A Link Between Your Kidney Health And Other Chronic Diseases? Study Says Yes

Credits: iStock

Turns out, kidney disease is not just a ‘kidney’ problem anymore, it can, in fact, affect other organs, and could even be linked to other chronic conditions, revealed a recent study.

In the US, more than 1 in 7 adults are affected by chronic kidney disease or (CKD). This means that 35.5 million Americans are affected by it, and what makes it worse is that 9 out of 10 people do not even know they have CKD, says the Centers for Disease Control and Prevention (CDC). Amid all these numbers thrown on to, something more concerning lies. A recent Lancet study shows a link between the rise in CKD and other chronic diseases. We are talking about chronic conditions like diabetes, high blood pressure, and obesity.

So, What Does The Study Say?

The researcher saw that 14 percent of adults who are over the age 20 or older, which makes 788 million Americans who had CKD in 2022. The biggest problem is not the disease itself, but the unawareness. Doctors, experts, and researchers from time and again have pointed out how kidney disease is often asymptomatic, this is why it is ignored until it becomes advanced. However, at that point the patients could already need dialysis or even an organ transplant. This gap in early diagnosis and treatment is what has made CKD the ninth leading reason of death, worldwide.

When you kidney functions naturally, it works as the powerhouse of filtration. A pair of healthy kidneys are able to filter and process more than 150 liters of fluid from the blood. These organs are also responsible for filtering out the waste and toxins through your urine. Not just that, but your kidneys also help in red blood cells production that keeps you healthy. When all of that does not happen, it can eventually impact every other organ in your body.

Like they say, everything is connected, and it surely is. For instance, somewhere around 20% of the blood that your heart pumps goes to your kidneys. If someone has diabetes and high blood pressure, it could damage the blood vessels and lead to protein in the urine and a slower filtration rate. It can then lead to other chronic infections, autoimmune disorders, and even genetic variants.

Kidney-Body Relation

If you leave your kidney disease untreated, it could lead to kidney failure. This is when you would be more in need of dialysis or a transplant. Doctors have pointed out that most people do not die of chronic kidney disease, rather it impacts their quality of life, worsening their cardiovascular conditions. It can lead to complications like a heart attack, a stroke, or a heart failure.

How Does This Happen?

People who have kidney diseases are at an increased risk for high blood pressure. Due to hurdles in the process of filtration, plaque build ups and hardens the arteries. This in return increases stress on the heart. In fact, the American Heart Association also defined the link between kidney and heart as 'cardiovascular-kidney metabolic syndrome'. This defines a health disorder that is a condition of the overlap of obesity, chronic kidney disease and cardiovascular diseases.

The bleed out of CKD is not just limited to your heart. The National Institute of Health, US points out that along with heart complications and high blood pressure, CKD could also lead to anemia, mineral and bone disorder, metabolic acidosis, malnutrition, and electrolyte imbalances in the blood.

So, What Is The Best Way To Keep Yourself Safe?

The first way is to note any symptoms and get yourself diagnosed. Look for signs like loss of appetite, unexplained nausea or vomiting. Do you feel tired often? Are you having trouble concentrating? Is there any change in how often you go pee?

Other symptoms like a change in your urine color or texture, or feeling itchy or dry, muscle cramps, unexplained weight loss or skin conditions could also signal towards kidney diseases.

However, not always does CKD show symptoms, experts suggest that to be one step ahead, it is important to undergo regular health checkups, including blood culture. General guidelines usually point towards getting a blood test done every 3 to 6 months. For someone with high blood pressure, diabetes or any other disease, the current guidelines say that those people should get regular blood and urine tests to screen for kidney disease. But what really happens is that though these tests exist, they are still used far too little. Doctors point out that many patients skip them because collecting a urine sample feels inconvenient, and overall awareness about kidney disease remains low. As a result, research shows that only about 35 percent of people with diabetes, and just 4 percent of those with high blood pressure, actually end up getting the recommended urine screening.

A ray of hope is that there are now several effective tools to slow the progression of kidney disease. Along with traditional options like ACE inhibitors, newer classes of medications including certain heart failure drugs and GLP-1 drugs. These medicines have shown to help protect kidney function. Although these newer treatments are not widely used yet, their adoption is steadily increasing.

What is important to remember is to also always consult your GP to ensure all preventative measures are followed carefully.

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Does Drinking Cold Water Help With High Blood Pressure? Expert Reveals

Updated Dec 7, 2025 | 02:00 AM IST

Summary A rising number of people are turning to quick home remedies to manage sudden spikes in blood pressure, and one of the most common beliefs is that a glass of cold water can help bring the numbers down. The idea has gained attention online, but doctors explain that the body’s reaction to cold is far more complex.
cold water blood pressure

Credits: Canva

Consuming enough water each day plays an important role in keeping the body working as it should. It helps digestion and metabolism, supports temperature control, aids waste removal, and keeps organs and tissues in good condition. Still, whenever blood pressure rises, many people look for quick fixes, and one of the most common questions is whether drinking cold water can calm the numbers.

The idea sounds straightforward, but the body reacts to cold in more layered ways. Knowing how cold water influences the heart and blood vessels can help separate fact from assumption. To understand this better, we spoke with Dr Rajeev Chowdry, Director of Internal Medicine at Yatharth Super Speciality Hospital, Sector 20, Faridabad.

Can Cold Water Help With Blood Pressure?

Cold water may bring down blood pressure for a brief period. Drinking chilled water can activate the vagus nerve in some individuals, which slows the heart rate and leads to a short-lived drop in blood pressure. The body also triggers a “diving reflex” when exposed to cold, such as splashing cold water on the face, and this can cause a similar short-term response.

Dr Rajeev explained, “Cold water may lower blood pressure for a small amount of time, but not enough to replace someone’s prescribed treatment for hypertension or to be trusted as a method to manage the condition.” He added that for certain people, cold exposure might have the opposite effect, causing blood vessels to tighten and raising blood pressure instead.

Blood Pressure: Who Is Most At Risk?

According to Dr Rajeev, some groups are more vulnerable to a rise in blood pressure, added strain on the heart, or other problems linked to sudden cold exposure:

  • High Blood Pressure (Hypertension) — Cold temperatures narrow blood vessels, which can push blood pressure even higher and raise the risk of stroke or heart attack.
  • Older Adults — With age, arteries become less flexible, making it harder for the body to adjust to sudden changes in temperature.
  • People With Heart-related Health Issues — Cold exposure can place extra demand on the heart by raising blood pressure, changing heart rate in some cases, and reducing blood flow to the heart as blood vessels tighten. This may trigger chest pain for some individuals.
  • Patients With Arrhythmias — Those with irregular heart rhythms may experience worsening symptoms, particularly with sudden contact with cold water.
  • Individuals On BP-lowering Medication — Some may feel dizzy, lightheaded, or rarely faint if very cold conditions combine with medication that lowers blood pressure.

In summary, while water alone will not manage high blood pressure, staying well hydrated supports overall health and may contribute to better long-term blood pressure control. Anyone making changes to their routine should check with a healthcare professional, especially those already dealing with medical conditions or concerns about their blood pressure.

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Is Your Skin Reacting to Toxic Air? Dermatologists Point to 8 Early Warning Signs

Updated Dec 6, 2025 | 09:00 PM IST

SummaryPollution can weaken your skin barrier and speed up ageing. Dermatologists explain eight early signs your skin is reacting to polluted air, from dullness and breakouts to sensitivity and pigmentation, and share guidance on how to protect it.
skin pollution

Credits: Canva

Air pollution is now recognised as a major trigger for skin problems. Dust, smoke residues, PM2.5 particles, and heavy metals settle on the skin through the day. They weaken the barrier, disturb the skin’s balance, and speed up signs of ageing. People living in crowded, high-traffic areas often notice dullness, pigmentation, breakouts, and sensitivity more than those in cleaner environments.

Two skin specialists helped us understand the early warning signs you should never overlook.

8 Signs Your Skin Is Reacting to Pollution

1. Sudden Dullness and Loss of Glow

Pollutants oxidise the skin’s natural lipids and damage its protective layer. This makes the face look tired and lifeless even when sleep and nutrition are well balanced. Many people notice a loss of glow on days spent outdoors, especially during peak pollution periods., as per Dr Geeta Grewal, Cosmetologist and Founder of 9Muses Wellness Clinic

2. More Blackheads and Clogged Pores

Dr Grewal notes that PM2.5 particles slip into pores and mix with sweat and sebum. This leads to blackheads, whiteheads, and congested skin. A rough, bumpy texture is one of the most common pollution-related concerns.

3. Frequent Breakouts

Rising pollution levels increase inflammation and oxidative stress, which disrupts the skin’s microbiome. These changes can bring tiny breakouts, fungal acne-like clusters, or painful pimples. Environmental irritants often act as hidden triggers, especially in urban areas.

4. Uneven Skin Tone and Pigmentation

Constant oxidative stress encourages the skin to produce more melanin. According to Dr Grewal, this results in dark spots, sun spots appearing sooner, and patchy pigmentation along the cheeks, nose, and forehead. Many people mistake this for sun damage alone, but pollution plays a major role.

5. Increased Sensitivity

If skincare products that once felt comfortable now sting or cause redness, pollution may be weakening your skin barrier. Warning signs include burning, itching, a warm sensation on the skin, or sudden irritation without a clear cause, as per Dr Ameesha Mahajan, Cosmetic Dermatologist and Founder, Eden Skin Clinic.

6. Early Fine Lines and Premature Ageing

Dr Mahajan explains that pollutants trigger free radical damage. This breaks down collagen and elastin, the proteins that keep skin firm and smooth. Over time, it leads to wrinkles, crow’s feet, and mild sagging around the eyes and mouth.

7. Dry, Rough, or Dehydrated Skin

Pollutants strip moisture and damage the barrier, causing tightness and flakiness even in people with oily skin. When the barrier is compromised, moisturisers stop working as well, which worsens dehydration.

8. Frequent Rashes or Dermatitis Flares

People with sensitive skin conditions such as eczema, psoriasis, or rosacea may notice more flare-ups when pollution rises. Dr Mahajan says that constant exposure can lead to rashes, bumps, and patchy irritation that keeps returning.

Avoiding pollution entirely is difficult, but protecting your skin is possible. Strengthen the barrier with antioxidants, sunscreen, gentle cleansers, and weekly detox habits. Watch for the early warning signs mentioned by the experts and act early. A strong skin barrier remains the most reliable way to maintain clear, healthy, and youthful skin despite rising pollution levels.

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