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Showing posts with label DNA tests. Show all posts
Showing posts with label DNA tests. Show all posts

Wednesday, 9 October 2019

Pancreatic Cancer: You Can Spot This Killer Before It’s Too Late

Genetic tests can help determine your risk—and possibly save your life…

Diane M. Simeone, MD, an internationally recognized surgeon and scientist, the associate director for translational research at Perlmutter Cancer Center at NYU Langone Health and director of its Pancreatic Cancer Center in New York City. 


Date July 1, 2019   Publication Bottom Line Health





CANCER PREVENTION

Pancreatic Cancer: You Can Spot This Killer Before It’s Too Late

Pancreatic cancer is often lethal because it is rarely detected in early stages. Now, life-saving screening can monitor your risk. Read on…


Pancreatic cancer is a frightening disease because it’s usually diagnosed only when it’s reached an advanced, all-too-often lethal stage. But it doesn’t have to be that way. 
Everyone knows about screening guidelines for colon cancer and breast cancer, but few are aware that screening tests for pancreatic cancer also are available. Recognizing the key risk factors for this malignancy will help you and your doctor decide whether such tests are appropriate for you or a loved one.
When a pancreatic cancer is found via a screening program, there is an 80% to 90% chance that the tumor can be removed, and up to 30% to 35% of those individuals will live for five or more years. 
However, when a pancreatic cancer is found in a person who has not been regularly screened and he/she has already developed symptoms (such as abdominal or back pain, weight loss, nausea and/or jaundice), there is only a 15% chance that it can be removed. This lack of early detection, along with the need for improved therapies, has resulted in a persistently low overall survival rate of 9% for pancreatic cancer patients.
Here’s how to spot pancreatic cancer before it’s too late…

Know Your Risk Factors

The first step to staying ahead of pancreatic cancer is knowing how to assess your risk factors. Your risk is higher if you have any of the following…
• Two or more relatives with pancreatic cancer, including one first-degree relative (parent, sibling or child). 
• A first-degree relative who developed pancreatic cancer before age 50.
• An inherited genetic syndrome  linked to pancreatic cancer such as Lynch syndrome, which is also associated with colorectal cancer…or BRCA mutations, which predispose a person to breast, ovarian and prostate cancers. 
Note: People of Ashkenazi Jewish (Central and Eastern Europe) descent aren’t the only ones who can have BRCA mutations. Though less common, individuals of Norwegian, Swedish, Italian and other ethnic groups have been found to also carry certain BRCA mutations. 
Other factors that increase your risk for pancreatic cancer…
• Long-standing type 2 diabetes (more than five years), which increases pancreatic cancer risk by twofold. Note: New-onset diabetes—especially when weight loss instead of weight gain appears—may be an early sign of pancreatic cancer.
• Chronic pancreatitis, which can be caused by heavy use of alcohol (usually four or more drinks a day), increases risk for pancreatic cancer by about threefold.  
• Personal history of another type of cancer, such as breast or colon cancer or melanoma. 
• Smoking. About 25% of all pancreatic cancer cases are associated with smoking.
• Age. Most people with pancreatic cancer are diagnosed after age 45.
• Gender. Men are slightly more at risk than women. 
• Obesity. People with a body mass index (BMI) of 30 or more are 20% more likely to develop pancreatic cancer.
• Workplace exposure to certain chemicals. Research has found significant links between workplace exposure to chemicals, such as pesticides, asbestos, benzene and chlorinated hydrocarbons, and increased risk for pancreatic cancer.
• Diet. Eating a diet high in processed meats and/or red meat has been linked to increased risk for pancreatic cancer. For every 50 g of processed meat consumed daily (roughly the equivalent of one hot dog or four strips of bacon), risk for pancreatic cancer increases by 19%. The increased risk linked to red meat consumption is less significant but also present—especially in men.
Important: An easy-to-use online Pancreatic Cancer Risk Assessment tool (Find-PanCancer-Early.org) can help determine your risk level based on your answers to a few brief questions about your personal and family medical history. You also can work with your own physician to do a thorough family history if you’re more comfortable with that approach.

Next Steps

If you have any risk factors for pancreatic cancer that are controllable, take immediate action. For example, stop smoking…reduce or eliminate alcohol if you are a heavy drinker…lose weight if you’re overweight…and avoid diabetes or treat it if you’ve already been diagnosed with this condition.  
Meanwhile, if you have a family history of pancreatic cancer, talk to your doctor about getting your DNA examined through germline genetic testing, a blood test that looks for specific hereditary mutations in your cells and can help determine your risk. The cost of germline testing has plummeted in recent years, and there are validated tests that check a panel of gene mutations that can be performed for as little as $250. In individuals with a family history of pancreatic cancer, germline testing is typically covered by insurance.
Guidelines published in 2018 in Journal of Clinical Oncology recommend that all patients with pancreatic cancer consider having germline testing. Individuals with a strong family history of pancreatic cancer also are advised to undergo testing and screening. 
At the multidisciplinary Pancreatic Cancer Center at the NYU Perlmutter Cancer Center, we found that 15% of pancreatic cancer patients have a germline mutation (also known as a “hereditary mutation”) that increased the patient’s risk of developing the disease, even if a strong family history wasn’t present. 
Knowing whether such a hereditary, or germline, mutation is present in a pancreatic cancer patient may change the treatment strategy…and have implications for testing siblings and children who might also be at higher risk. 
Genetic counseling will help you understand the test results and decide whether it’s appropriate to consider enrolling in a screening program run by specialists in pancreatic cancer. To locate a certified genetics counselor, consult the National Society of Genetic Counselors at NSGC.org.
If an individual is deemed to be high risk, annual imaging of the pancreas is recommended. Two types of tests are used—a pancreatic MRI/MRCP (a special type of MRI)…and an endoscopic ultrasound (EUS).
We usually start with the MRI/MRCP and then check with an EUS the next year, alternating the exams each year. The two tests are complementary and examine the pancreas in slightly different ways. Insurance should cover these tests. 
The MRI is noninvasive. With EUS, an upper endoscopy is performed, passing a thin scope down the esophagus into the stomach and the first part of the small intestine after sedation is given (much like a colonoscopy, but no prep is needed). The scope has an ultrasound probe at the end, and the pancreas can be readily visualized, as it is next to the stomach.
Both tests have only very minor risks, but it’s important that the screening be done in a multidisciplinary clinic where there’s collaboration among various health-care providers, such as genetic counselors, gastroenterologists, pancreatic surgeons, radiologists and social workers as well as a tumor board, where this team of experts, along with oncologists, meets to discuss each patient’s unique situation. Pancreatic cancer is a complicated disease, and decision-making in high-risk individuals is best done with an experienced team guiding your care.
Important: Even with a genetic mutation linked to pancreatic cancer, most people will not get the disease. But with an increased risk, it is crucial to know that screening can be an effective strategy to combat pancreatic cancer. I tell my patients, knowledge is power. As we do a better job in identifying individuals at risk, we will be much better positioned to shift the disease from the advanced state to one in which many more patients have easier-to-treat, surgically resectable disease.
With a concerted effort in early detection (and prevention), along with the development of more effective therapies and clinical trial strategies, it is likely that we will see a change in survival in pancreatic cancer patients in the coming years—and it’s about time. 
This is a rapidly moving field, so ask questions and seek information from doctors who are at the forefront of the research. 

Getting the Best Care



The Pancreatic Cancer Action Network (PanCan.org) is a patient-advocacy group that serves as a resource for finding a high-quality pancreatic cancer center. It’s the driving force behind Precision Promise, a multicenter “adaptive” clinical trial initiative that allows multiple novel therapies to be evaluated alongside standard-of-care approaches to speed the development of new treatments.
Other excellent resources: Rolfe Pancreatic Cancer Foundation (RolfeFoundation.org), a nonprofit dedicated to early diagnosis of pancreatic cancer, research that aims to cure the disease and resources for patients and their families…and Project Purple (ProjectPurple.org), another nonprofit group that funds research to defeat pancreatic cancer and supports patients and their families.
https://bottomlineinc.com/health/cancer-prevention/pancreatic-cancer-you-can-spot-this-killer-before-its-too-late

Friday, 1 June 2018

‘Holy grail’ of blood tests can detect 10 types of cancer

Doctors could soon be able to detect 10 different types of cancer using a simple blood test.
The “holy grail” of cancer tests could pave the way for a universal screening program that could save tens of thousands of lives each year.

‘Holy grail’ of blood tests can detect 10 types of cancer
Experts say the simple check allows early diagnosis when survival chances are higher.
It works by pinpointing DNA that has broken free of a tumor.
The test was administered on 749 cancer-free patients and 878 with newly diagnosed but untreated cancer.
It can currently detect ovarian, pancreatic, liver, lymphoma, multiple myeloma, colorectal, esophageal, lung, head and neck, and breast cancers, but it works best for ovarian and pancreatic forms of the disease.
The “comprehensive” test identified 90 percent of ovarian cancers and 80 percent of pancreatic and liver cancers.
It picked out four in five liver tumors, 58 percent of breast cancers and 59 percent of lung cancers.
Experts say it could be available in hospitals within a few years and is likely to cost between $660 and $1,300 each time.
Study leader Dr. Eric Klein from the Cleveland Clinic, said: “This blood test detected multiple cancers at various stages with high specificity, indicating this approach is promising as a multi-cancer screening test.
“It gives us the opportunity to find cancers months or years before someone would develop symptoms and be diagnosed.
“It is potentially the Holy Grail of cancer research – to find cancers that are currently hard to cure at an earlier stage when they are easier to cure.
“This test could be used for everybody, regardless of their family history.
“More research is needed but it could be given to healthy adults of a certain age, such as those over 40, to see if they have early signs of cancer.”
Professor Nicholas Turner, from the Institute of Cancer Research, London, described the findings as “really exciting.”
“Far too many cancers are picked up too late, when it is no longer possible to operate and the chances of survival and slim,” he said.
“The goal is to develop a blood test, such as this one, that can accurately identify cancers in their earliest stages.
“This particular test is really exciting but it is likely to be a few years before it is ready for clinical use.
“When this test, or another like it, are ready for clinical use, it could be used as part of a universal screening program, with the potential to save many lives.”
Fiona Osgun, from Cancer Research UK, added: “The idea that we could one day offer people a blood test that could find cancer earlier is certainly exciting.
“Detecting cancer early, before it has spread is one of the most powerful ways to ensure more people are offered treatments which give them a better chance of beating the disease.”
Simon Stevens, chief executive of the National Health Service in England, said: “We stand on the cusp of a new era of personalized medicine that will dramatically transform care for cancer and for inherited and rare diseases.
“In particular, new techniques for precision early diagnosis would unlock enormous survival gains, as well as dramatic productivity benefits in the practice of medicine.”
The findings were presented at the annual conference of the American Society of Clinical Oncology in Chicago.

https://nypost.com/2018/06/01/holy-grail-of-blood-tests-can-detect-10-types-of-cancer/

Wednesday, 5 July 2017

'Exciting' blood test spots cancer a year early

Doctors have spotted cancer coming back up to a year before normal scans in an "exciting" discovery.
The UK team was able to scour the blood for signs of cancer while it was just a tiny cluster of cells invisible to X-ray or CT scans.

  • 26 April 2017
Doctors have spotted cancer coming back up to a year before normal scans in an "exciting" discovery.

The UK team was able to scour the blood for signs of cancer while it was just a tiny cluster of cells invisible to X-ray or CT scans.

It should allow doctors to hit the tumour earlier and increase the chances of a cure.

They also have new ideas for drugs after finding how unstable DNA fuels rampant cancer development.

The research project was on lung cancer, but the processes studied are so fundamental that they should apply across all cancer types.


Lung cancer kills more people than any other type of tumour and the point of the study is to track how it can "evolve" into a killer that spreads through the body.


Blood test

In order to test for cancer coming back, doctors need to know what to look for.

In the trial, funded by Cancer Research UK, samples were taken from the lung tumour when it was removed during surgery.

A team at the Francis Crick Institute, in London, then analysed the tumour's defective DNA to build up a genetic fingerprint of each patient's cancer.

Then blood tests were taken every three months after the surgery to see if tiny traces of cancer DNA re-emerged.

The results, outlined in the journal Nature, showed cancer recurrence could be detected up to a year before any other method available to medicine.

The tumours are thought to have a volume of just 0.3 cubic millimetres when the blood test catches them.


'New hope'

Dr Christopher Abbosh, from the UCL Cancer Institute, said: "We can identify patients to treat even if they have no clinical signs of disease, and also monitor how well therapies are working.

"This represents new hope for combating lung cancer relapse following surgery, which occurs in up to half of all patients."

So far, it has been an early warning system for 13 out of 14 patients whose illness recurred, as well as giving others an all-clear.

In theory, it should be easier to kill the cancer while it is still tiny rather than after it has grown and become visible again.

However, this needs testing.

Prof Charles Swanton, from the Francis Crick Institute, told the BBC: "We can now set up clinical trials to ask the fundamental question - if you treat people's disease when there's no evidence of cancer on a CT scan or a chest X-ray can we increase the cure rate?

"We hope that by treating the disease when there are very few cells in the body that we'll be able to increase the chance of curing a patient."




Janet Maitland
Janet Maitland, 65, from London, is one of the patients taking part in the trial.

She has watched lung cancer take the life of her husband and was diagnosed herself last year.

She told the BBC: "It was my worst nightmare getting lung cancer, and it was like my worse nightmare came true, so I was devastated and terrified."

But she had the cancer removed and now doctors say she has a 75% chance of being cancer-free in five years.

"It's like going from terror to joy, from thinking that I was never going to get better to feeling like a miracle's been acted," she said.

And taking part in a trial that should improve the chances for patients in the future is a huge comfort for her.

"I feel very privileged," she added.




Evolution

The blood test is actually the second breakthrough in the massive project to deepen understanding of lung cancer.

A bigger analysis, published in the New England Journal of Medicine, showed the key factor - genetic instability - that predicted whether the cancer would return.

Multiple samples from 100 patients containing 4.5 trillion base pairs of DNA were analysed.

DNA is packaged up into sets of chromosomes containing thousands of genetic instructions.

The team at the Francis Crick Institute showed tumours with more "chromosomal chaos" - the ability to readily reshuffle large amounts of their DNA to alter thousands of genetic instructions - were those most likely to come back.

Prof Charles Swanton, one of the researchers, told the BBC News website: "You've got a system in place where a cancer cell can alter its behaviour very rapidly by gaining or losing whole chromosomes or parts of chromosomes.

"It is evolution on steroids."

That allows the tumour to develop resistance to drugs, the ability to hide from the immune system or the skills to move to other tissues in the body.

'Exciting'

The first implication of the research is for drug development - by understanding the key role of chromosomal instability, scientists can find ways to stop it.

Prof Swanton told me: "I hope we'll be able to generate new approaches to limit it and bring evolution back from the brink, perhaps reduce the evolutionary capacity of tumours and hopefully stop them adapting.

"It's exciting on multiple levels."

The scientists say they are only scratching the surface of what can be achieved by analysing the DNA of cancers.

http://www.bbc.co.uk/news/health-39658680

Tuesday, 4 July 2017

Chief medical officer calls for gene testing revolution

Cancer patients should be routinely offered DNA tests to help select the best treatments for them, according to England's chief medical officer

  • 2 hours ago
Genetic screening for cancer

Cancer patients should be routinely offered DNA tests to help select the best treatments for them, according to England's chief medical officer

Prof Dame Sally Davies says in her annual report that the NHS must deliver her "genomic dream" within five years.

Over 31,000 NHS patients, including some with cancer, have already had their entire genetic code sequenced.

Dame Sally wants whole genome screening (WGS) to become as standard as blood tests and biopsies.

Personalised medicine


Humans have about 20,000 genes - bits of DNA code or instructions that control how our bodies works.

Tiny errors in this code can lead to cancer and other illnesses.
Sometimes these mistakes are inherited from a parent, but most of the time they happen in previously healthy cells.

WGS - which costs about £700 - can reveal these errors by comparing tumour and normal DNA samples from the patient.

Dame Sally says that in about two-thirds of cases, this information can then improve their diagnosis and care.

Doctors can tailor treatments to the individual, picking the drugs mostly likely to be effective.

And WGS can also show which patients are unlikely to benefit, so they can avoid having unnecessary drugs and unpleasant side-effects.

Quicker diagnosis


Dame Sally wants DNA testing to become standard across cancer care, as well as some other areas of medicine, including rare diseases and infections.

"I want the NHS across the whole breadth to be offering genomic medicine - that means diagnosis of our genes - to patients where they can possibly benefit," her report says.

People with rare diseases could benefit from having greater access to the technology, speeding up diagnosis.

Doctors are already using genetic tests to identify and better treat different strains of the infectious disease tuberculosis.

Dame Sally said patients could be assured that their genetic data would be stored securely and "de-identified" so that their privacy would be protected.


The Genomic Dream

pills and DNAImage copyright D3Damon/Getty
Over 10 years ago, international scientists reached a breakthrough in DNA work - sequencing the entire genetic blueprint of man. The Human Genome Project meant experts now had a catalogue of DNA code to explore and refer to.

They began to understand which genes controlled which processes in the body and how these could go wrong.

Doctors then started to "read" a patient's DNA to get a better idea of what might be causing their symptoms and how best to treat their illness.

Genomic medicine - tailoring care based on an individual's unique genetic code - is now transforming the way people are cared for by the NHS.

Genes can predict if a woman with breast cancer might respond to certain drugs, or whether radiotherapy is likely to shrink a tumour, for example.



Currently, genetic testing of NHS patients in England is done at 25 regional laboratories, as well as some other small centres.

Dame Sally wants to centralise the service and set up a national network to ensure equal access to the testing across the country.

A new National Genomics Board would be set up, chaired by a minister, to oversee the expansion and development of genomic services.

Sensitive data


Dame Sally told BBC Breakfast that a lot of money was being spent because it was currently operating like a "cottage industry".

By having centralised laboratories, more could be done with the money, including keeping up with the latest technology, she said.

She said one hurdle could be doctors themselves, who "don't like change", and she urged cancer service patients to press their doctors to move from a local to a national service.

She also said patients must understand they needed to allow use of their data, alongside other data, in order to get the best diagnosis, and therefore the best treatment.

Phil Booth, from campaigning organisation, MedConfidential, said this move had "huge potential" for patients and the NHS, but there were "great risks with large collections of sensitive data".

"Every single use of patient data must be consensual, safe and transparent," he told BBC Radio Four's Today programme, and patients should be able to opt-out if they so wish.

http://www.bbc.co.uk/news/health-40479533