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Familial cancer: A relatively less discussed burning issue

What is familial cancer syndrome? It’s a genetic problem where a person harbors a specific or multiple genetic alteration which makes him/her predisposed to have one or multiple cancer and the problem runs in the family.



Cancer is considered as a modern-day epidemic. its incidence and prevalence are increasing slowly but steadily over the years across the globe. As per recent GLOBOCAN 2020 data, almost 20 million new cancer cases were diagnosed worldwide, and 10 million people died of this disease. The cancer incidence has been projected to be almost 30 million in next two decades. There have been spectacular developments in many aspects of cancer. These include but essentially not limited to screening, early diagnosis, treatment, complication prevention etc. Still there are many things to achieve and there are some areas where progress has been limited over decades. Familial cancer is one such area.

All cancers are genetic but not all cancers are familial.Cancer is considered as a modern-day epidemic.

What is familial cancer syndrome? It’s a genetic problem where a person harbors a specific or multiple genetic alteration which makes him/her predisposed to have one or multiple cancer and the problem runs in the family.

Am I at increased risk of having cancer? A very common question we often encounter. “Doc, my mom had breast cancer, am I at risk?” or, “Doc, will my kids be affected with similar cancer in future?” are some of the questions. Familial cancers are associated with higher risk of transmission in the family.

What are different types of genetic mutations? There are two basic types, germline and somatic mutations. Almost 5-10% of all cancers are supposedly caused by inherited genetic mutations. A gene can be considered as a basic unit of hereditary information of a person. A mutation is alteration or change in that genetic information. When a mutation comes from a defective sperm or egg at the time of conception, such mutations can be incorporated into the DNA of every cell of the offspring and is known as germline mutation. That means, the child is born with such genetic defect from mother’s womb. And only such germline mutations can be transferred to an offspring. So, in essence, this type of mutations can be considered hereditary or familial as they have the risk of running in the family. The other type of mutation can happen after conception and can involve any cells of the body other than the germ cells (sperm or egg) and known as somatic mutation. Such mutations can not pass on from one person to the children. It has to be remembered that all cancers are genetic but not all cancers are familial (ability to transfer in the family). So, cancers which are results of germline mutation, can affect same family members who are blood related. Cancers which are result of somatic mutation, cannot affect other family members.

What are the cancers which can run in family? Many cancers can be associated with high risk of running in family. A very common mutation is TP53 gene mutation. Normally this gene prevents occurrence of cancer by suppressing the growth of tumor. There are some other genes which normally repair a damaged DNA and thus prevents cancer. Mutation of such repairing gene can also lead to formation of cancer. Sometimes multiple cancers happen due to mutation of such genes, and they are known as Familial Cancer Syndrome. Few such syndromes are Li-Fraumeni Syndrome, hereditary breast and ovary cancer syndrome, hereditary non-polyposis cancer syndrome etc. The list is longer. One of such syndromes which is mostly discussed is hereditary breast-ovarian cancer syndrome. This is associated with mutation of BRCA1and/or BRCA2 genes. Almost 7-10% of breast cancers are associated with gene mutations. Among such cases, almost 80% are related to BRCA1/BRCA2 mutation. This gene mutation is associated most commonly with breast cancer, ovarian cancer, fallopian tube cancer, colorectal cancer, uterine cancer, male breast cancer and prostate cancer. Similarly, some blood cancers, colorectal cancers, soft tissue sarcomas, kidney cancers, brain tumors, nerve fiber tumors, skin cancers etc. can also be associated with hereditary cancer syndromes.

How can familial/hereditary cancers be suspected? A suspicious mind is the first requirement to suspect and evaluate such situations. Detailed family history along with family tree can be of great use to suspect familial cancers. Most of the people give a positive cancer history among the blood related family members. Once suspected, genetic screening and testing can be advised along with counseling of the affected person and family.

What are typical features of familial cancers? Other than being associated with family history, these cancers have a tendency to occur at a relatively young age. Sometimes they are associated with multiple cancers. Also, they have a tendency to be more aggressive compared to non-familial counterpart.

Should genetic testing be advised for all? Certainly not. Indiscriminate genetic testing will increase confusion and fear. It is indeed a job of an expert who understands the associated confusions and uncertainties. Given the context of our country, its socioeconomic and cultural practice, advising genetic tests may be difficult for many reasons and needs extreme caution to avoid unnecessary complications in life.

Having a mutated gene synonymous of having a cancer? Essentially No. It only means a higher risk of having certain cancers. People having certain genetic mutations need to be cautious and consult an expert. They should also follow a surveillance program to detect any cancer at the earliest possible time.

Is radiation more harmful when used in such patients? Not necessarily. It needs understanding of the current cancer problem, risk and life threat associated with the already diagnosed cancer and the relative risk of radiation causing any additional harm. Sometimes, radiation treatment is a life saving measure and the patient can die out of the already diagnosed cancer if not treated properly, well before the projected timeline when he/she could develop radiation induced second cancer causing any harm. So, avoiding radiation only because someone has a mutation can be dangerous.

What should I do? If you think you can have a higher risk of having cancer for some reason, you should talk to an expert. If you have strong family history of cancer or multiple cancers or cancers at very young age, you should seek help from an expert at the earliest possible time. And, last but not the least, Do not do random genetic testing.

The opinions shared are personal and based on available medical literature to the best interest of non-professional. The author is Associate Director, Radiation Oncology, Max Super Speciality Hospital, Saket, Delhi and can be contacted at dodulmondal@gmail.com

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Medically Speaking

Study details benefits of turmeric compound



According to a new study by the University of California, a compound found in turmeric called Curcumin helps grow engineered blood vessels and tissues.

The findings of the study were published in the journal, ‘ACS Applied Materials & Interfaces. The study indicated that a finding by UC Riverside bioengineers could hasten the development of lab-grown blood vessels and other tissues to replace and regenerate damaged tissues in human patients.

Curcumin has anti-inflammatory and antioxidant properties and is known to suppress angiogenesis in malignant tumors.

The magnetic hydrogels embedded with curcumin-coated nanoparticles promote the secretion of vascular endothelial growth factors.

Curcumin’s possible use for vascular regeneration has been suspected for some time but has not been well studied. Huinan Liu, a bioengineering professor in UCR’s Marlan and Rosemary Bourns College of Engineering, led a project to investigate curcumin’s regenerative properties by coating magnetic iron oxide nanoparticles with the compound and mixing them into a biocompatible hydrogel.

Bioengineers at UC Riverside have now discovered that when delivered through magnetic hydrogels into stem cell cultures this versatile compound paradoxically also promotes the secretion of vascular endothelial growth factor, or VEGF, that helps vascular tissues grow.

When cultured with stem cells derived from bone marrow, the magnetic hydrogel gradually released the curcumin without injuring the cells.

Compared to hydrogels embedded with bare nanoparticles, the group of hydrogels loaded with curcumin-coated nanoparticles showed a higher amount of VEGF secretion.

“Our study shows that curcumin released from magnetic hydrogels promotes the cells to secrete VEGF, which is one of the most critical growth factors to enhance the formation of new blood vessels,” said co-author Changlu Xu, a doctoral candidate in Liu’s group who focused on hydrogel research.

The researchers also took advantage of the nanoparticles’ magnetism to see if they could direct the nanoparticles to desired locations in the body.

They placed some of the curcumin-coated nanoparticles in a tube behind pieces of fresh pig tissue and used a magnet to successfully direct the movement of the nanoparticles.

The achievement suggested the method could eventually be used to deliver curcumin to help heal or regenerate injured tissue.

In fact, the best curcumin supplements contain piperine, and this makes them substantially more effective.

In addition, animal and cellular studies suggest that curcumin may block the action of free radicals and may stimulate the action of other antioxidants. Further clinical studies are needed in humans to confirm these benefits

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Though type 2 diabetes is an inherited disease, habits can affect the risk of getting it. Obesity due to fatty and high-calorie foods, often in combination with limited activity, increases the risk considerably.

A new study at NTNU (The Norwegian University of Science and Technology) and St. Olav’s Hospital Centre of Obesity has followed people in the risk group for five years. Participants were offered organized physical activity and courses on the diet. “We’re seeing that follow-up from the health services in Norwegian municipalities over a long period can help reduce the risk of developing diabetes 2 and improve people’s health,” says researcher Ingrid Sordal Folling at NTNU’s Department of Health and Nursing.

Folling works in the Centre for Obesity Research, Surgical Clinic at St. Olavs Hospital in Trondheim. The study results have been published in the British Medical Journal.Taking action helpWorldwide, 350 million people have type 2 diabetes.

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Medically Speaking




Taking care of one’s heart is crucial, especially if one is suffering from heart failure. Heart failure is the inability of the heart to pump blood efficiently, as seen by shortness of breath, fast heartbeat, and exhaustion. Heart Failure Awareness Month in 2022 is a fantastic time to promote awareness about the issue while also providing simple advice to help heart failure patients live better and happier lives.

Heart failure is a chronic illness that can be adequately controlled with the right treatment and care. Heart failure patients can greatly benefit from regular interactions with their cardiologists, adherence to prescribed treatment plans, and adopting a healthy lifestyle. Dr. K Sarat Chandra, Senior Cardiologist at Apollo Spectra Hospital, Hyderabad, former Editor, Indian Heart Journal, and former President, Cardiological Society of India said, “In India, heart failure is an increasing problem and the reasons for this are the high prevalence of diabetes, hypertension, chronic kidney disease, and heart attack. Very often we see younger people coming with these conditions. To prevent these problems, we need to improve our lifestyle, do regular exercise, stop smoking and limit alcohol intake. Also control blood sugar, blood pressure, and cholesterol. Regarding heart failure, several new treatments have come into practice and early treatment will benefit our patients.”

Here are a few tips for all heart failure patients:

Talk to your cardiologist

It is good to have regular conversations with your cardiologist. Report new or worsening symptoms you observe immediately. These timely check-ups will help you keep track of your progress and get the right advice at the right time.

Check your salt consumption

Inadequate blood flow to the kidneys causes the body to retain water and fluids which leads to swollen legs, abdomen, and ankles, increased urination, and weight gain. High salt consumption is known to cause extra fluid build-up in your body and worsens heart failure. Therefore, keep your salt intake in check by lowering salt levels in your meals, replacing salt with herbs and spices, or choosing ‘low-salt’ or preferably ‘no salt added’ when buying canned or frozen foods.

Track your fluid intake

Drinking a lot of fluids can worsen your heart failure. It is advisable to limit beverages like tea, juice, and soft drinks, as well as foods with high water content like soups, watermelon, or even ice cream! Quick weight gain can be a sign of fluid build-up in your body.

Stick to the prescribed treatment

Staying on top of taking your medications as prescribed is crucial for effective heart failure management. Use reminders or alarms to never miss a dose or an appointment! If you live alone, paste sticky notes on your cabinets or refrigerator as an easy reminder.

According to Prof. (Dr.) Sundeep Mishra, former Professor of Cardiology Department of AIIMS and presently Vice-Chancellor (President) of NIMS University, “With the increasing burden of Heart Failure in India, especially in the younger population, it is necessary to recognize it – as a public health priority. The key reason for the rise in heart failure cases is the growing dependency on a sedentary lifestyle, higher consumption of salt, sugar, and fat in the diet, and rising stress levels. Although, heart failure can be still managed better by regular treatment and regular conversations with a cardiologist and a holistic treatment plan can help one manage the condition better.”

Heart failure is a serious chronic condition where the heart cannot pump enough blood to support the needs of other organs in the body. The most common causes of heart failure include coronary heart disease, myocardial infarction (heart attack), congenital heart defects, or damaged heart valves. Symptoms include breathlessness, fatigue and swollen limbs. it is the most frequent cause the age of 65.

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Medically Speaking

How brain changes during treatment of depression



Researchers have shown what happens to the brain when treated for depression known as repetitive transcranial magnetic stimulation (rTMS).

The findings of the research were published in the ‘American Journal of Psychiatry’ by a collaborative effort across the Centre for Brain Health, including DMCBH researchers Dr Sophia Frangou, Dr Rebecca Todd, and Dr Erin MacMillan, as well as members of the UBC MRI Research Centre including Laura Barlow at the University of British Columbia. rTMS is a depression treatment typically used when other approaches — such as medications — haven’t been effective for a patient. It is estimated that approximately 40 per cent of people with major depression do not respond to antidepressants.

During an rTMS session, a device containing an electromagnetic coil is placed against a patient’s scalp. The device then painlessly delivers a magnetic pulse that stimulates nerve cells in a region of the brain involved in mood control — called the dorsolateral prefrontal cortex.

Although proven to be effective, the mechanisms behind how rTMS affects the brain have not been well understood.

“When we first started this research, the question we were asking was very simple: we wanted to know what happens to the brain when rTMS treatment is being delivered,” said Dr Fidel Vila-Rodriguez, an assistant professor in UBC’s department of psychiatry and researcher at the Djavad Mowafaghian Centre for Brain Health (DMCBH).

To answer this question, Dr Vila-Rodriguez and his team delivered one round of rTMS to patients while they were inside a magnetic resonance imaging (MRI) scanner. Since the MRI can measure brain activity, the researchers were able to see in real-time what changes were happening in the brain.

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Amit Trivedi lends voice to inhaler campaign by Cipla



Asthma ke liye Inhalers Hain Sahi’ (inhalers are right for asthma) has been sung by Amit Trivedi and Nikita Gandhi for Cipla Limited. The song is penned by lyricist Amitabh Bhattacharya and composed by Amit Trivedi. Cipla Limited has launched the #InhalersHainSahi song under its campaign #BerokZindagi. Amit Trivedi spoke to The Daily Guardian about the song and more.

Q: Share your association with Cipla’s Berok Zindagi Campaign? What does the campaign strive to achieve and how does it aim to create an impact?

I am glad to collaborate with Cipla and contribute to their ongoing efforts toward creating awareness around asthma and inhalers. I hope this jingle will strike a chord with people and help create the right amount of awareness and help-built confidence amongst asthmatics. I feel humbled to be associated with the campaign because I know how important this issue is and I’ve got this opportunity to bring awareness about using inhalers.

Q: What drove you to be a part of this campaign? Is there any personal reason associated with the same?

I believe that awareness can liberate and help break stereotypes. And, this campaign is doing the same. #InhalersHainSahi song is another step towards starting a conversation on asthma and inhalers. The campaign gave me a reason to be part of this cause and to team up with Cipla in their effort to help & support people with asthma to live a better life.

Q: How do you think music plays an important role in driving conversations around less debated topics like asthma?

Music is a powerful medium to convey the message with a great impact and can build a strong emotional connection with the audience. It can lighten up a serious situation while still keeping the essence of the message intact.

Q: How will this jingle create an emotional touch among the audience? How do you think the jingle will help in driving awareness?

As mentioned earlier, I am certain that the music has the power to evoke an emotional chord with the audience. The #InhalersHainSahi song will help create the right amount of awareness and help-built confidence amongst asthmatics.

Q: What do you think is the most unique about this jingle?

The music is hummable and retains the message of the campaign that we want to convey through the song.

Q: What are your future projects?

 Recently I did my first Gujarati film Prem Prakaran and the rest you will know very soon.

Q: You have introduced several new singers, how do you cast the voices for your songs?

I like to bring in new voices and new musicians because talent can be found anywhere. I’m always open to giving opportunities and trying out new people for my projects.

Q: How do you keep innovating with every new film?

It’s a creative process continuously between the entire team, there is briefing discussion, jamming, the vision of the director, which ultimately leads to newer ideas.

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Medically Speaking

Punjab populace more hypertensive than the nation: NFHS Survey



When the national average is 25.3% in terms of hypertension prevalence, Punjab is shooting up at 35.7%. As per National Family Health Survey that was conducted in 2020-2021, it is clear that Punjab is the only state where the populace is more prone to hypertension than any other state in India. All thanks to trans fat and the lifestyle of Punjabis makes them easy victims of cardiovascular diseases.

The Daily Guardian spoke to the Community Medicine Professor Dr Sonu Goel on this. Dr Goel exhorted that it has been concluded in many surveys including the NFHS survey that trans fat is an invariable component of industrial fat and one of the major dietary factors associated with cardiovascular disease mortality, increasing the risk of heart disease by 21% and deaths by 28%. Many in the early age group of 35 to 50 years in Punjab have become victims of uncontrolled high blood pressure, says Dr Goel.

“It’s being seen in people with a family history of premature chronic heart disease or stroke and a raised triglyceride level. Besides this, modifiable risk factors include unhealthy diets, excessive salt consumption, a diet high in saturated fats and trans fats, and low intake of fruits and vegetables,” says Dr Goel.

“Non-communicable diseases (NCDs) are the most found cause of disease burden. In recent years, the rising burden of cardiovascular diseases and high disease severity has been one of the significant threats in low-income and middle-income countries compared with high-income countries. People who are young believe in the myth that heart attacks can occur only in old age. They should wake up and adopt a healthy lifestyle at the earliest. One should give at least one hour to physical activity and make sure not to ignore the body’s signals,” he adds.

There has been an increase in the rate of coronary artery disease (CAD) in India in the last three decades.

A study published by the Journal of Clinical and Diagnostic Research in 2016 states that Indians have three, six, and twenty times greater risk of hypertension than Americans, Chinese, and Japanese populations respectively. “It is a matter of concern and there is a requirement to identify the factors responsible for its increasing prevalence, concludes Dr Goel.

Punjab is the only state where the populace is more prone to hypertension than any other state in India.

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