Exacta – A Test to Accurately Screen The Cancer Mechanism


Cancer is caused due to the mutations in the genes – it is a disease of genes. Just like every human body, each person’s cancer is unique. However, the overall genetic makeup of a particular cancer tumor and the patient is not taken into consideration in the standard approach to the cancer treatment. It results in the failed therapies or aggressive relapse. Thus, it is important that genetic architecture of the cancer tumor is studied extensively before deciding the treatment plan.

This is where genetic screening plays a crucial role. DGL has introduced a high-precision test to screen the cancer – Exacta.

About Exacta

Exacta unfolds the deepest genetic secrets of an individual patient’s cancer by accurate, multi-coordinate analysis of all 22,000 genes in the cancer genome. Exacta reaches the depths of cancer’s mechanisms through 100s of millions of data points. It helps to reveal the driver mutations and pathways that are propelling a particular person’s cancer and can be targeted with precision drugs. Exacta thus enables a highly sophisticated treatment strategy beyond conventional perspective. This is the unmatched strength of Exacta. Exacta is the latest and world’s best molecular analysis for difficult cancers.

How does the test help?

It reports all pathways as per KEGG database to identify the most appropriate gene targets for therapy.

Indication of therapy resistance / Angiogenic / Proliferation / Metastatic / Recurrence Potential.

Gene expression of Primary and Metastasis tumours.

Whole exome analysis of Primary and Metastasis (all NCCN recommended genes and more).

Analysis of all miRNA in the cancer genome.

Whole genome analysis of mtDNA (Primary and Metastasis)

Mutation burden and telomere attrition / compromise.

Tests cytotoxic drug response / resistance of cancer genome.

Screens Germline metabolic response to cytotoxic / small molecule therapy.

Detects loss of Hetrozygosity / Micro Satellite Instability / epigenetic indicators.

This test is important where – 

  • The First Line Therapy has failed
  • Relapse of the cancer
  • High grade or metastatic cancer
  • The Risk of Therapy Failure is high.

It is now indeed important for cancer patients to undergo the screening before rushing into any treatment which may pose a severe threat to the health. Being well-informed helps in taking correct decisions.

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Pancreatic Cancer and genetics


Among the other lesser known types of cancers is pancreatic cancer. It is found in 1 per 100,000 people every year as opposed to the 80 cases per 100,000 people diagnosed by breast cancer which is one the most common cancer types in women.

Out of 232,000 people diagnosed with pancreatic cancer in 2002, 227,000 died by 2010, around the world. It is a fast growing and aggressive disease in which the death occurs within five years of the disease diagnosis.

Compared to the West, pancreatic cancer is less common in India, however, in the last couple of years, the rate of cancer cases has gone up. Almost all the cases diagnosed are in the last stage and chances of survival are zero. This cancer is usually found in old-age people.

Image credits -diseasesdata.com
Image credits -diseasesdata.com

Symptoms

By the time cancer is large, it is already grown outside the pancreas and then the symptoms start showing Cancer tumor is generally located on the head of pancreas – an organ that breaks down the food. So the cancer at the head causes symptoms such as jaundice, weight loss, itching, nausea,vomiting, dark urine, back pain, and abdominal pain. Pancreatic cancer in the tail or body of the pancreas generally causes belly and/or back pain and weight loss. Usually, cancers in head of the pancreas show symptoms earlier than the cancers in body or tail.

Pancreatic cancers are of two types – adenocarcinoma and neuroendocrine tumor. Steve Jobs was affected by neuroendocrine tumor – a rare form that is reported in just 5% of people diagnosed with pancreatic cancer.

Pancreatic cancer is diagnosed at a later stage in 89-90 percent cases and in such cases the patient can survive only for18-24 months.

Genetic causes of pancreatic cancer

Inheritance of cancer is one of the causes of pancreatic cancer. Inherited gene mutations are generally passed from parent to child. These mutated genes cause around 10% of pancreatic cancers along with other cancers. Familial pancreatitis is caused by mutations in the gene PRSS1. These mutations and risk factors can be identified using genetic testings like Hereditary Cancer Screening.

DNA mutations in cancer genes often occur after you are born. Most of these cancer causing mutations are after birth rather than being inherited. These acquired mutations sometimes result from exposure to cancer-causing chemicals. E.g. those found in tobacco smoke.

The risk factors like changes in the genes that cause cancer causing syndromes can be recognised by genetic testing.

Surgery, chemotherapy, radiation, and anticancer drugs are some of the treatments for pancreatic cancer that may increase the lifespan of the patients.

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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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Role Of Genetics In Breast Cancer and BRCA-1 & 2 Mutations


“I know my children would never have to say- mom died of cancer!” said Angelina Jolie- famous Hollywood actress after her decision of preventive surgery for ovarian cancer where she had her ovaries and fallopian tubes removed. BRCA mutation was found in her tests and three women in her family; including her mother had died of cancer. Thus, she had to take a preventive measure.

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.

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Each cell in our body consists of genes that have genetic code for our body. These codes contain the information regarding various functions of our body for example – when the cells grow, divide, and die. Changes in these genetic codes are called mutations. Many of these are harmless; while some increase the risk of diseases like breast cancer. BRCA are inherited mutations; thus you need to undergo this test only once. I.e. they do not develop during our lifetime.

According to the American Journal of Human Genetics and Journal of Clinical Oncology, around 55-65% of women with confirmed BRCA mutation will develop breast cancer by the age of 70 and their immediate family members have 50% chances of possessing the same risk.
It’s not only women who are at risk; while women have 85% risk of breast cancer and 40% risk of ovarian cancer; men too have about 20% risk of prostate cancer and/ or male breast cancer.

Thus, to examine the risk of it, Datar Genetics Limited has introduced a test using NGS platform that has 99.9% analytical sensitivity and 100% specificity and accuracy. NGS means Next Generation Sequencing. It enables us to examine the genetic mutations in members of families with high incidence of cancer.

BRCA -1 & BRCA – 2 are two genes which are linked to HBOC (Hereditary Breast & Ovarian Cancer) these genes produce tumor suppressor proteins which help to repair damaged DNA. When either of these genes have mutations, it increases the risk of cancer.

BRCA 1 & BRCA 2 testing should be considered if:-

  1. You had breast cancer at early age
  2. Your mother, sister, or daughter had breast cancer at early age or ovarian cancer.
  3. You are a woman with 1st degree relative who’s diagnosed with bilateral breast cancer before age of 50
  4. The men in your family have strong history of breast/ ovarian cancer.

Genetic testing

A doctor/ genetic counselor helps you decide whether genetic testing is appropriate for you. In most cases, test is primarily done on the person in the family who has breast cancer. If mutation is not found, other family members need not be tested.

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image description

The test includes counseling and a blood test and you can get the results in around two weeks.

It is very important for you to know if you are at a risk of mutation and you should ask your doctor what tests and precautions should be taken to lower the risk.

Women who have BRCA 1 gene mutation are at higher risk of triple negative breast cancer while BRCA 2 carriers have breast cancers that are Estrogen Receptor positive. BRCA 1/2 mutations increase the risk of ovarian cancer. Men with BRCA 2 mutation have increased risk of prostate and breast cancer.

Risk reduction options:-

Following are the recommended cancer screening tests:-
  1. Breast Self Examination/ Clinical Breast Exam (CBE)
  2. Mammography
  3. Breast Magnetic Resonance Imaging

There are also some risk lowering options for BRCA1/2 carriers, like- FDA approved drugs and treatments like prophylactic mastectomy and prophylactic oophorectomy.

Timely examinations and preventive treatments are best way to lower the risk of breast cancer.

 

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