Causes of ovarian cancer you should definitely know about


“I think cancer helps to transform a person… It affected me so much that it enabled me to grow, appreciate life and honor my body.” Says Manisha Koirala, while talking about her ovarian cancer that was diagnosed in 2012. There is very less awareness about ovarian compared to the breast cancer in India. Ovarian cancer affects the ovaries of women and most of the times; the increase in abdominal area is looked over. The symptoms are very hard to see and non-specific. Thus, the diagnosis happens at a stage when the cancer is hard to treat.

There are some early signs of ovarian cancer; like these mentioned below –

  • Pain and pressure in abdomen and it’s bloating.
  • Having trouble while eating and feeling full shortly after eating.
  • Increased urge of urinating and increased frequency.

Above symptoms do not necessary mean that the cancer is present, however, it is recommended to get the checkup done if those persist for more than a month.

Now let us see some common causes attributed to ovarian cancer.

Image credits - topinfopost.com/
Image credits – topinfopost.com/
  1. Inherited faulty genes

Most of the ovarian cancers are due to the genetic changes that occur in woman’s body during her lifetime and not necessarily inherited. Around 1 in 10 ovarian cancers are result of inherited gene mutation. These genes include BRCA1 & BRCA2 which are also responsible for increased risk of breast cancer.

The risk of developing ovarian cancer is more if you have close relatives (mother, sister, or daughter) who had ovarian or breast cancer. However, if they were less than 50 years of age at the time of cancer diagnosis, it is possible that their cancer was because of inherited faulty genes.

There are many genetic tests available which help to know your genetic make-up and family history. It also detects your risk for ovarian cancer.

  1. Previous breast cancer

Sometimes, same set of faulty genes is responsible for breast as well as ovarian cancer. i.e. women who earlier had breast cancer have more risk of developing ovarian cancer compared to general women population. If the diagnosis of breast cancer was before 40 years of age, the risk is four-fold.

If you had breast cancer before 40 and have a family history of ovarian cancer, you have 17 times the average risk of ovarian cancer.

If you think you may have a faulty gene, you can speak to your GP. There is more information about screening for ovarian cancer in this section.

  1. Fertility treatment

Some studies have linked fertility drugs to an increased risk of ovarian cancer, but recent studies do not support this. But there is a risk of ovarian tumours in infertile women who have been treated with IVF; however, infertility increases the risk of ovarian cancer more rather than its treatment.

  1. Hormone replacement therapy

Combined HRT is considered as one of the causes for ovarian cancer. A study observed that women using HRT for a few years were having more risk of developing ovarian cancer than women who had never used it. The risk is very low compared to the other causes.

  1. Using IUD

IUD means intra uterine device. It is one of the birth control measures used by females. A study has shown that women who use a coil (IUD) have an increased risk of ovarian cancer, but the risk is still small.

  1. Physical conditions

Checking BMI (Body Mass Index) in regular intervals is important. BMI shows if you are obese or underweight compared to your height. A study in 2008 stated the risk of being overweight for premenopausal & postmenopausal women. It was observed that premenopausal women with more than 30 BMI had a risk of ovarian cancer, but postmenopausal women had none. It is also found in a research that taller women have more risk of ovarian cancer than shorter women.

  1. Endometriosis

Research has shown that women with endometriosis have an increase in their ovarian cancer risk compared to women who do not. Endometriosis is a disease in which a tissue that generally grows inside the uterus grows outside it.

Smoking is one of the reasons of ovarian cancer. Image credits - archives.deccanchronicle.com
Smoking is one of the reasons of ovarian cancer.
archives.deccanchronicle.com
  1. Smoking

It is a proven fact that smoking causes many hazards- including lung cancer. However, it also has a role in ovarian cancer. A research showed an increased risk of mucinous ovarian tumours in smokers. However, the risk was back to normal after the smoking was stopped.

  1. Diet factors

Though the effect of diet on ovarian cancer is not yet highly established, studies show that diet high in animal fats may lead to ovarian cancer.

Prevention tips

It is said that prevention is always better than cure. Thus, here are a few tips important for the prevention of ovarian cancer.

– High level of blood calcium level means increased risk of ovarian cancer- make sure to get it monitored regularly.

– Contraceptive pills reduce the risk of ovarian cancer in women and also protect them from the disease even 30 years after they discontinue the medication.

– Women with family history of any cancer should never ignore any of the above mentioned symptoms.

– Hysterectomy reduces the risk of ovarian cancer by about one-third.

No matter what, screening is absolutely important. It not just screens for the cancer but many other genetic disorders and also helps you to take the necessary measures.

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Lung cancer and its causes beyond smoking


In India, lung cancer constitutes more than 7 per cent of all new cancer cases and around 10 per cent of all cancer related deaths. This is applicable for both genders. Lung cancer is the commonest cancer and biggest cause of cancer related mortality in men. Whenever we read about lung cancer, the first thought that comes to our mind is smoking. Indeed, smoking is the biggest cause of lung cancer, however, other factors cannot be overlooked as they too affect both the genders equally. One of those is our genetic make-up.

Lung cancer tops the list of cancers in males – In India and globally.

While smoking is a known risk factor, pollution, passive smoking and hazardous work environment – like asbestos, mica, coal and bauxite mining. 15% of the lung cancer cases in India are often attributed to a combination of genetic factors, radon gas, asbestos, pesticides and air pollution including passive and static smoking.

Second hand smoke

It is one of the important factors in tobacco-related deaths in India. Second-hand smoke is the one that fills enclosed places like restaurants, offices when people smoke cigarettes, cigars, or bidis. Tobacco smoke contains more than 4000 chemicals in out of which at least 250 are harmful and more than 50 chemicals from it are known to cause cancer. This also affects children as many of them regularly breathe polluted air in public spaces which has smoke in it. Around 45% children have either of the parents having smoking habit.
Britain recently made a law that stops anyone from smoking in a car that has passengers below 18 years of age. More than 2 lakh people die because of second hand smoke in India.

Asbestos

Lung cancer is more common in the people who work in sectors like auto mechanics, construction workers, insulation installer, roofers, paper mill workers, etc. Risk of Lung cancer increases from exposure to asbestos every year by 4 percent.

Image credits- liquidarea.com
Image credits- liquidarea.com

Genetic Make up

Genes and genetic variations in our body contribute to the bodily functions and overall health. This also includes the possibility of having various diseases which are hereditary or developed in our body due to changes in the genetic codes. Researchers studied entire genomes of cancer patients as well as healthy individuals and found out a region on chromosome 15 which may have been influential in causing lung cancer. Mutations in CHEK 2 gene also largely affect the risk of lung cancer. Some people inherit a reduced ability or inability to break down certain types of cancer-causing chemicals in the body. E.g. those found in tobacco smoke. This increases their risk of lung cancer.

Datar Genetics Limited offers Hereditary Cancer Screening test which identifies such risk for lung and other forms of cancer. This test can help your doctor to decide further course of treatment.

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Genetic Testing and Beta Thalassemia


When a year old Moinam’s parents noticed his pale appearance and tiredness, they consulted a physician near their home in Siliguri. His blood test showed alarmingly low hemoglobin count. But the doctor prescribed an iron-based tonic without concluding, thinking that he was suffering from a minor form of anemia.

However, later it was discovered that he had beta-thalassemia. Until he was recommended for stem-cell transplantation, he had to continuously undergo regular medication and blood transfusion.

After the stem-cell transplantation, his blood tests started showing positive results and his parents; who are carriers of thalassemia, were relived.

Just like Moinam, around 10,000 to 12,000 babies with major thalassemia syndrome are born each year in India.

It has been estimated that there are around 30 to 40 million carriers of beta-thalassemia in the country. In spite such alarming numbers, very little is known about this disease.

Because of the complexities, thalassemia is considered as a dreadful disease. However, isn’t it surprising that bollywood superstar Amitabh Bachchan also has thalassemia minor yet perfectly leading a normal life and continues to entertain us?

About Beta-thalassemia

Beta-thalassemia is a blood disorder that causes decreased production of hemoglobin, a molecule that carries oxygen throughout the body.

People with a mutation only in one copy of gene have thalassemia minor. Thalassemia minor results in zero or very slight anemia.

Thalassemia major occurs when child acquires two mutated genes, one from each parent.  Children born with thalassemia major usually develop the symptoms of severe anemia within the first year of life.

Beta-thalassemia is most common in African American, Asian, Hispanic, Mediterranean and Middle Eastern populations than other populations.

Effects

Reduced amounts of hemoglobin cause a shortage of red blood cells, called anemia. Severe anemia can cause a person to be pale, short of breath, easily tired, and have poor growth. Frequent infections and blood clots are also associated with anemia. The severe type of beta-thalassemia, called Cooley’s anemia, or beta-thalassemia major, causes life-threatening anemia, failure to thrive, poor growth, jaundice, and enlarged organs including the liver, spleen, and heart.

How it is inherited?

Beta-thalassemia is an autosomal recessive disorder, which means that a couple might have a child with beta-thalassemia only if both reproductive partners are carriers. When both reproductive partners are carriers of beta-thalassemia, there is a 25% chance of each child having the disease.

Beta Thalassemia inheritance

 

Genetic testing helps.

There are two tests available for testing if you’re either a carrier or a beta-thalassemia major:

  1. Complete Beta thalassemia (HBB) gene analysis:

This test analyzes the HBB gene for all the mutations that may cause Beta-Thalassemia, by Sanger sequencing.

2. Genetics Screening for Beta Thalassemia                    (5 common mutations):

 This test analyzes the 5 most common mutations in the HBB gene that may cause Beta-Thalassemia, by Sanger sequencing. These common mutations are the most common ones found in 90% of Indian population. Both of the above tests require a sample of 4 ml whole blood.

The results–

If you are a carrier of beta-thalassemia, the next step is to have your partner tested to check if she/he is a carrier too.
If your partner is tested and is not a carrier then the chance of the two of you having a child with beta-thalassemia is low. Speak with your doctor or genetic counselor for recommended next steps.
If your partner is tested and you both are carriers of beta-thalassemia, then there is a 25% chance that each child will have beta-thalassemia. This chance is the same regardless of your ethnic background or your family history.

Since beta-thalassemia is an inherited disease, your close family members are at increased risk of being carriers as well. It will be better for them if they get tested too.

What are the treatments?

 Treatment for beta-thalassemia includes regular blood transfusions. In some cases, a stem cell transplant can cure the disease. This is necessary to provide a temporary supply of healthy red blood cells with normal hemoglobin that the patient’s body needs. Nowadays, drugs designed to remove excess iron (iron chelators) have significantly changed the prognosis of thalassemia.

Apart from proper medication and keeping check on iron content in diet (as the iron overload may cause complications with major organs), a typical day in a life of child with beta-thalassemia is pretty normal.

Thus, medical advances continue and promise to improve the life expectancy and quality of life further for those living with thalassemia.

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Personal Genome Analysis – A Test to know yourself better


On April 6, 2003, NBC journalist David Bloom, 39 died after spending long hours in a tank with limited mobility while covering Iraq invasion. Later it was discovered that it was a pulmonary embolism — a blood clot that moved from the leg to the lung. It is caused by a condition called deep-vein thrombosis. He wasn’t aware of the fact that he was genetically predisposed to blood-clots. If he had known about this condition, his life would have been saved with precautionary measures. Knowing your genetic condition is very important, which is highlighted from the above incidence.

DNA in cells governs many of your physical characteristics like height, colour of eyes, texture and colour of hair, and so on. Genes are inherited from the biological parents and that’s how characteristics of your parents and grandparents affect the children. Along with characteristics, other factors like risk to certain physical conditions/ diseases are also caused by genetic predisposition. E.g. Obesity is caused by genetic predisposition in 70% cases. That is why it becomes very important to know and explore your genes.

Genome exploration means revealing the information on one’s genome using the landmarks or Single Nucleotide Polymorphism which would help us reach a particular risk or predisposition. Genomes are the set of genes or genetic material present in a cell.

Genetics is important because of the below mentioned factors-

  • Blue print of our individual existence.
  • Plays crucial role in treatment of various diseases.
  • Genetic diseases which are undiagnosed or diagnosed late.
  • Affects quality of life.

It helps clinicians as they can utilize genetic discoveries to provide efficient drugs and predictive information to create personalized lifestyle management for you. It also develops therapeutics and health management tools to help prevent disease and engage individuals to actively participate in their healthcare decisions.

Genome-wide association study (GWAS) and Indian population

When adapting genome tests for India; diseases, disorders, and other conditions specific for Indian region need to be considered. Beta Thalassemia is the most common genetic disorder. Specific mutations for Beta Thalassemia, which are well known to be present in Indian population, are analyzed.

Next, all the allele frequencies are adapted according to the actual frequencies in Indian population. This was done using the genotyping data, processed till date (more than 1 000 people), for every single mutation. Valid allele frequencies are important as they affect the final risk calculation for development of the disease.

Personal Genetic Analysis is recommended for you if:

You have a family history of certain diseases.

You would like to adjust your lifestyle according to your genes.

You want to know your risks and hidden talents.

You realize that prevention is better than cure.

In the PGA report, your risk of getting a particular condition/disease is given in comparison with the risk in general population. Risk does not mean presence of disease or certainty of developing the disease, because both genetic as well as environmental factors are responsible for the onset of a disease. E.g. Genes influence Iron Metabolism in about 30% of cases while diet and environment influence iron metabolism in 70% cases.

The report also reveals your inherent metabolic response to various food components like carbohydrates, fats, protein and various vitamins.

PGA DTR

 “Our genomes truly are a fundamental part of us. They are what make us human, including the distinctively human ability to learn and create culture. They account for at least half of what makes us different from our neighbors. And though we can change both inherited and acquired traits, changing the inherited ones is usually harder.”– Steven Pinker, Cognitive Scientist.

 

 

 

 

 

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Pharmacogenetics – Selecting Right Drugs For the Right Genes


Did you know that 87%of the total patients receiving cancer chemotherapy develop Adverse Drug Reactions (ADR)? It also causes 50 deaths out of 1000 patients in India. These statistics highlight the importance of correct drugs for the treatment.

Depending on your genetic makeup, some drugs may work more or less effectively for you than they do in other people. Likewise, some drugs may produce more or fewer side effects in you than in someone else.

Pharmacogenetics is the study of inherited genetic differences in drug metabolism which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects. It plays an important role in Oncology.

Now, doctors are able to use information about your genetic makeup to choose the drugs and drug doses that are helpful to you.

For example, if a patient asks for extra amount of codeine to relieve the pain, it can come across as a sign of an evading patient seeking narcotics. However, that patient can be breaking down the codeine within minutes of swallowing it and therefore not be able to create the intermediate molecule that relieves the pain. With this conclusion, the physician can suggest the suitable drugs.

image credits- static1.squarespace.com/
image credits- static1.squarespace.com/

Pharmacogenomics also help to save you time and money as the “best-fit” drug for you can be chosen from the beginning of the treatment to avoid the trial-and-error approach of giving you various drugs.

Besides pharmacogenomics, other factors may influence how a person reacts to a drug. These include:

  • Person’s age and gender.
  • How advanced the cancer is.
  • Person’s lifestyle habits, such as smoking and drinking alcohol.
  • Other diseases that they have and the medications they are on for these conditions.

FDA Guidelines for Pharmacogenetics

The U.S. Food and Drug Administration (FDA) has listed many drugs that need genetic testing before introducing them in the treatment. Some of them are Mercaptopurine and Irinotecan. FDA recommends genetic testing before giving the chemotherapy drug mercaptopurine (Purinethol) to patients with acute lymphoblastic leukemia. It also advises doctors to test colon cancer patients for certain genetic variants before administering irinotecan (Camptosar), which is part of a combination chemotherapy regimen.

Let us see some case studies so that we can understand how pharmacogenetic analysis helped patients with better drugs, and thus, treatment.

  1. A 62 year old male patient with colon cancer was started with a standard dose of FOLFOX and after 6 weeks, Irinotecan and Cetuximab were introduced. However, after the first cycle, sever Myelo-suppression was developed. It delayed the chemo for 3-15 days every cycle. At DGL, comprehensive pharmacogenetic analysis consisting of tumour mutation analysis was advised which confirmed ADR to Irinotekan and 5FU and capsitaben was recommended.
  1. 52 year old male Chronic Smoker diagnosed with adenocarcinoma of the Right Lung with liver metastasis was given Pemetrexed and Carboplatin- 6 cycles which showed partial response. He was advised comprehensive pharmacogenetic analysis at DGL consisting of Tumor mutation analysis for efficacy evaluation and Pharmacogenetics for toxicity profile that showed KRAS mutation which explains partial response to Pemetrexed. Other mutations detected suggestive of personalized targeted therapy.

Geneshield Test at DGL

This test at DGL requires sample of whole blood/ saliva and turnaround time is 2 weeks. The report will give you the information of the genetic mutations you carry that would affect the efficacy of drugs. This test also gives you information about the toxicity of these drugs on your body at the same time.

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It’s always better to maintain a good rapport with the doctor. Here are the few things which you should discuss with your doctor before starting a treatment.

  • Would you explain my treatment options?
  • Which treatment or combination of treatments do you recommend? Why?
  • What are the possible side effects of this treatment?
  • Is there a way to predict how the cancer will respond to this drug or whether I might experience severe side effects?
  • What are my options if the cancer does not respond to the drug or if I suffer from severe side effects?

Detecting the ill-effects of drugs and replacing them with proper ones under expert advice definitely help to give the treatment a right direction.

 

 

 

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