Breast Cancer and the Genes Behind it

Before we delve into the topic of breast cancer and the genes behind it, let’s first brush up on our basics, what is cancer? Cancer is the name given to a collection of related diseases. In all types of cancer, some of the body’s cells begin to divide without stopping and spread into surrounding tissues.It can start almost anywhere in the human body, which is made up of trillions of cells. Normally, human cells grow and divide to form new cells as the body needs them. When cells grow old or become damaged, they die, and new cells take their place.When cancer develops, however, this orderly process breaks down. As cells become more and more abnormal, old or damaged cells survive when they should die, and new cells form when they are not needed. These extra cells can divide without stopping and may form growths called tumors.


Now that we know what exactly cancer is, let’s discuss breast cancer, as we can figure from the name, the majority of this cancer’s victims are females, with their risk of getting it increasing with age. One in eleven women gets breast cancer at some point in their lives. While there are quite a lot of factors which increase the chances of a lady getting breast cancer, One that increases the chances the most is inheriting it via your parents. Breast cancer caused by inheriting a changed gene is called hereditary cancer. We all inherit a set of genes from each of our parents. Sometimes there’s a change (called a mutation) in one copy of a gene which stops that gene from working properly.

There are several genes for which inherited changes may be involved in the development of both breast and ovarian cancer. These are genes which normally control cell growth and prevent a woman getting breast or ovarian cancer. Some of these are genes that you may have heard are BRCA1 and BRCA2. Their names come from the abbreviation of ‘breast cancer 1’ and ‘breast cancer 2’. Both men and women can inherit a change in these genes.If a woman has inherited a change in one of these genes, she has a higher chance of breast or ovarian cancer but that doesn’t mean she’s certain to get cancer. Less than 5% of all breast and ovarian cancers can be explained by an inherited gene change in BRCA1 or BRCA2.


Like all cancers, if found early, it can be promptly treated. Any change in the size or shape of the breast, a lump in or close to the breast,any change in the nipple, such as a discharge

What exactly are BCRA1 and BCRA2? BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

Abnormal BRCA1 and BRCA2 genes may account for up to 10% of all breast cancers or 1 out of every 10 cases.


Are genetic tests available to detect BRCA1 and BRCA2 mutations?

Yes. Several different tests are available, including tests that look for a known mutation in one of the genes (i.e., a mutation that has already been identified in another family member) and tests that check for all possible mutations in both genes. DNA (from a blood or saliva sample) is needed for mutation testing. The sample is sent to a laboratory for analysis. It usually takes about a month to get the test results.

As the saying goes, “Knowledge is power” And the saying is especially true in this case, for you now hold the power to potentially cure yourself of this cancer if you treat it at the right time. Regular tests, along with a healthy lifestyle can ensure that your risk of getting this cancer is at a minimum.  


Breast Cancer and the Genes Behind it

7 Indian Genetic Sequencing Startups You Can’t Ignore

With the age of personalized medicine at the brink, it only makes sense that Indian genetic sequencing startups mushrooms to chip in on this medical revolution. With that spirit in mind, here’s a list of 7 startups which provide genetic sequencing as a service.
1. Ganit Labs Bio-IT center– An independent not-for-profit research Centre established as a public-private partnership initiative between the Institute of Bioinformatics and Applied Biotechnology and Strand Life Sciences, both in Bangalore, India.
2. Medgenome– MedGenome Inc. is a genomics-based diagnostics and research company delivering the best of health care by decoding the genetic information contained in an individual’s genome. They are the first mover and market leader in genomics-based diagnostics and research from India with global offices in San Francisco and Boston and is considered to be among the pioneers of Indian genetic sequencing startups.
3. Mapmygenome– Mapmygenome is a molecular diagnostics company to make people proactive about their health. They offer personalized health solutions based on genetic tests that help people to get to know about themselves. By combining genetic health profile and health history with genetic counseling, Mapmygenome provides actionable steps for individuals and their physicians towards a healthier life. Mapmygenome is focused on preventive health care through healthy habits.
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4. Xcelris– Considered to be among the most versatile of Indian genetic sequencing startups, They cutting-edge solutions to researchers across fields such as agriculture, human health, animal science, wildlife conservation, bio-energy, microbial and environmental genetics. Xcelris partners with the biotechnology industry, academia, research institutes and individual researchers in India and abroad. They cater to the needs of researchers by their comprehensive service portfolio ranging from Molecular biology kits, Oligosynthesis services, Sanger Sequencing services, Next Generation Sequencing and Bioinformatics analysis.
5. SciGenom– A Genomics R & D Services company, that provides genomic sequencing and bioinformatics services to life sciences and healthcare businesses globally as well as academic and government institutions in India. SciGenom started operations in Jan 2010. It is headquartered in Cochin, India with offices in Chennai & Hyderabad in India and San Francisco in the U.S. SciGenom is an NABL and ISO certified company, with a fully functional state-of-the-art molecular biology laboratory in Cochin and over 100 employees. It also has an R& D lab that is recognized by Department of Scientific & Industrial Research (DSIR), Ministry of Science & Technology, Government of India.
6. Jai Health– They develop and commercialize preventive health, genomic, molecular diagnostic and personalized medicine solutions for India, Asia, the Middle East and Africa. Research and innovation are at the heart of what they do and they build each solution up from the ground tailored specifically for the markets we serve.
7. Xcode Life sciences– With a panel that covers over 300 parameters that screen for several aspects of disease predisposition, skin aging manifestations, nutrition, and fitness, based on personal genomics. The custom-made genomic testing panels have been hand-picked by their researchers using stringent selection criteria, Xcode’s core area of focus is genomics. Their products are offered in India, Australia & South Africa.

With these string of startups offering the basic requirement of genome mapping it’s only a matter of time before the field of personalized medicines booms in the medical sector. Watch out for these companies and brace yourself for the unparalleled efficiency of personalized medicine!


I took prednisone advised by my doctor when I had Bell’s Palsy. It was really effective and in almost two week along with other vitamins tablets my BP got better.

But some of the side effect were:
1) Eating a lot, like whole day.
2) Sleeping problem
3) Angry and grumpy all day.

Personalized Medicine In India

Personalized medicine in India is a young but rapidly advancing field of healthcare that is informed by each person’s unique clinical, genetic, genomic, and environmental information. It is about making the treatment as individualized as the disease. It involves identifying genetic, genomic, and clinical information that allows accurate predictions to be made about a person’s susceptibility of developing the disease, the course of the disease, and its response to treatment.

Specific advantages that personalized medicine may offer patients and clinicians include:

 Ability to make more informed medical decisions

 Higher probability of desired outcomes thanks to better-targeted therapies

 Reduced probability of negative side effects

 Focus on prevention and prediction of disease rather than reaction to it

 Earlier disease intervention than has been possible in the past

 Reduced healthcare costs

Advances in Genomics Technology Have Set the Stage for a Revolution in Personal Genomics that will ultimately work towards preventive healthcare, disease burden reduction and Personalized Medicine in India. Positive hqdefaultBioscience has partnered with Medanta – The Medicity to launch India’s first personal genomics clinic, which offers state-of-the-art facilities and services in preventive healthcare and personalized medicine within the country. This partnership seeks to offer comprehensive personal genomics services to the customers along with advice from leading experts associated with the Medanta – The Medicity under one roof.

Advances in genomics now enable scientists to examine the DNA of each-and-every individual and then predict if the person would be susceptible to a particular disease or whether a particular medicine is suitable for that person in case he falls sick. This is where pharmacogenomics comes into play. Companies have started investing in pharmacogenomics as it offers several advantages such as the elimination of the unpredictable nature of drug development, bring new products to the market and the company could also benefit up to $200-to-$500 million for each drug.

main-thumb-t-265506-200-aduztyxvjxylkhxrkxzmaztfmjqdxhyxA start-up company called Xcode Lifesciences has come up with the InDNA technology to provide solutions to lifestyle-related diseases such as coronary, diabetes and obesity. A person has to order the test online after which a saliva kit will be shipped to the customer. This saliva kit is completely non-invasive and safe. DNA extracted from the saliva will then be used to determine the allelic information of the individual using high-throughput genotyping techniques.

sgdsdgssfgsdfgdNutraGene launched the country’s first commercial genetic test for type 2 diabetes. NutraGene’s Type 2 Diabetes Genetic Scan is a DNA testing service that screens DNA variations that have been widely replicated as risk factors for type 2 diabetes. It is based on a buccal (cheek) swab sample and the methodology of targeted mutation screening (genotyping).

AvesthagenAvesthagen is another major player focusing on pharmacogenomics field. One of the major projects of the company is the AVESTAGENOME Project. It is a system biology-based study of the Parsi population to determine the genetic basis of longevity and age-related disorders. This study aims to develop a model for pharmacogenomics-based therapies, development of biomarkers for predictive diagnostics and drug discovery and to enable the archiving of the genome of the community. Avesthagen started this Rs125 crore project in 2007.

Despite the optimism expressed regarding the impact that this field might have on the health of people, many barriers need to be crossed. Researchers, diagnostic firms and regulatory authorities need to establish methodologies by which to judge their effectiveness. Application of genomic and personalized medicine in India needs a change in the regulatory system.

Genes behind your tightening jeans!

With our jeans tightening, many of us at some point have asked this question to ourselves that why does it happen that some people eat more than us and still the pointer of their weighing machine don’t sway as much? The answer lies in there and your very own genes !

Yes! it’s true that the genes play a role in our body metabolism. Metabolism is the process by which your body converts what you eat and drink into energy required to do the work. During this biochemical process, calories in food and beverages are combined with oxygen to yield energy. Obese people who claim to have “slow metabolism” are proven right by some of the scientific discoveries that relate being overweight with reduced metabolic activity.

UntitledDr. Sadaf Farooqui along with researchers at the University of Cambridge has discovered that the gene KSR2 regulates body metabolism. They worked on two groups of people. One group had people who were obese since they were 10 years old and other was the control group. They found that 2% of obese people in the group had a mutation in the KSR2 gene. The percentage sounds less but it does not mean that only 2% of people were obese because of this gene but 98% of people had obesity probably because of other genes that control metabolism and weight. This gene is responsible for other scaffolding proteins of the body which make sure that the hormones like insulin are correctly processed in the body to regulate how cells grow, divide and use energy. The people who have a mutation in KSR2 gene have increased the urge to eat and a slow metabolic rate. They are not able to burn off the fat they consume and that is because they gain weight.


Dr. Farooqui concluded his discovery with reference to a term called epigenetic where environmental factors and lifestyle choices decide the genes being either on or off. Hence, in general, it is assumed that the person’s lifestyle puts a great impact on the health and body metabolism.


If you are fat and overweight then there is a possibility that you might me having a “fat gene”. The story of the fat gene begins with another study done by Professor Chin-Chung Hui, of the University of Toronto,   on the gene called FTO (the fat-gene) and its regulatory protein IRX3. The protein IRX3 regulates body metabolism and energy expenditure. The protein IRX3 interacts with FTO gene and causes obesity. Researchers found that mice deficient in IRX3 protein are 30% slimmer than their counterparts despite having the same amount of food and doing physical activity. These “slim mice” did not gain weight even when fed a high-fat diet. They were better in metabolising glucose and fat.  These IRX3 deficient mice had smaller fat cells and increased levels of brown fat which is helpful in burning up the unhealthy white fat.

Researchers also say that this IRX3 protein also has functioned on the hypothalamus – a portion of the brain known to regulate feeding behavior and energy expenditure. Overall, this “fat gene“has somehow opened the doors for the discovery of an anti-obesity drug which most of us in current generation dream of. According to an article in The Hindu, the gene responsible for obesity in Indians was identified by Dr. Kumarasamy Thangaraj of Hyderabad-based Centre for Cellular and Molecular Biology (CCMB). He found that the gene THSD7A is associated with obesity. THSD7 is a neural N-glycoprotein which promotes the formation of new blood vessels (angiogenesis). Angiogenesis, in turn, modulates obesity, adipose metabolism, and insulin sensitivity. Dr. Thangaraj explained that the gene is present in everyone, but when there is a mutation in the gene then there is a likelihood that person carrying the mutated gene will end up being obese. Obesity is a multigenic condition. Despite being a multigenic condition, people having the mutation can take measures to avoid obesity.

Another skilful work was done by Dr. Joseph Majzoub and his colleagues to explore why most people gain weight too easily while others eat much and do not gain an ounce. They observed that deletion of the MRAP2 gene leads to fat mice who gained more weight due to fat accumulation in the body than their siblings while eating the same amount of food. According to them, MRAP2 is a helper gene which acts on the brain and giving a signal to another gene which is responsible for controlling appetite. So if the helper gene is deleted then the whole signalling would be disturbed and the mice would crave for food. Hence, this is not just because you eat a lot of food, in fact, it is the slow metabolism of the body which is storing more unprocessed fat and making you look fat. As the scientist said, this discovery would definitely change people’s perspective of seeing obese people as those who lack self-control.

So, after referring to these studies we can conclude that there are some genes in our body that either alone or by participating together in signalling pathways control the process of fat metabolism in our body. Too much food intake is not the only reason for people being overweight. These discoveries have paved the path for many therapeutic strategies to target problems like obesity and diabetes. The studies done so far are like pieces of a puzzle. More pieces like these need to be discovered and arranged together to have a breakthrough in the field of health and medicine. The idea of anti-obesity drugs can be a success story in coming years. Many people can feel happy about the fact that it is not always your fault if you are overweight but it is something in your genes. There may be the metabolising gene, the fat gene, the regulatory protein or something else in your genes that are playing their games well and succeeding in storing unprocessed fat in the body. So next time when someone taunts you about being fat you can explain your point outside diet.


                                              REFERENCES  discover-obesity-gene-8902235.html






Imagine, next time when you visit your doctor for treatment, he asks questions like –where do you live and what do you do, in addition to symptoms; before prescribing you a medicine. And ‘YES’ everything is official about it! Maybe because he wants to find the medicine that ‘FITS’ you the best. Here we are talking about the concept of Personalized Medicines wherein “one drug fits all” approach in combination with Pharmacogenomic research can evolve into an individualized approach to therapy where optimally effective drugs are matched to a patient’s unique genetic profile.