A Blood Test for Early Detection of Breast Cancer Metastasis

“The chances of being cured of breast cancer have increased in recent decades, however if the tumour has metastasised, the disease remains essentially incurable. One reason for this could be that the metastases are detected late, after they have grown enough to cause symptoms or be seen on a radiological scan. If they could be found sooner, it might be possible to treat the new tumours. Research findings from Lund University in Sweden now provide new hope for a way of detecting metastases significantly earlier than is currently possible.

“The discovery was made by a research team led by Lao Saal, M.D. Ph.D, and is based on what is known as cell-free circulating DNA – small fragments of genetic material from different cells which circulate in the blood. It is normal to have low amounts of such DNA material in the blood, but in the case of diseases such as cancer, these amounts can increase. Furthermore, in cancer patients, the circulating DNA contains the genetic mutations which are specific to the tumor.

“Lao Saal and his colleagues used previously gathered material from a breast cancer study which has been underway in Lund since 2002. The material contained samples from surgically removed tumours from patients with non-metastatic disease as well as blood samples taken from the patients at regular intervals during the years in which they were followed up.”


New Test Could Sharply Reduce Risky, Costly Lung Cancer Biopsies

“When a suspicious lesion shows up in the lungs on a CT scan, the first thing your doctor wants to know is whether it’s cancerous. A specialist will pass a long, thin bronchoscope into your airway in the hope of grabbing a few cells of the growth so they can be examined under a microscope.

“But some of these lesions or nodules are deep in the small branches of the lungs, out of reach of the bronchoscope, which is about the diameter of a pen. Other times, the results are inconclusive. That has left only two ways to determine whether the abnormality is cancerous: inserting a needle through the chest wall and into the tumor, or surgically opening a patient’s chest to find it (and remove it if necessary).

“The first procedure carries a 15 percent risk of collapsing a lung (pneumothorax), as well as infection. The second is serious surgery that requires general anesthesia and results in the loss of lung tissue. Both are in-patient procedures that carry the cost and other risks of hospitalizations. In about a third of the surgeries, the growth turns out to be benign, meaning the surgery was unnecessary.

“But now, according to a study published Sunday in the New England Journal of Medicine, there appears to be a new, much less invasive way of determining whether a growth is malignant.”


Penn Medicine Study Reveals Why Almost Half of At-Risk Patients Opt Out of Comprehensive Multiplex Cancer Screening

“Some at-risk patients opted out of comprehensive cancer gene screening when presented with the opportunity to be tested for the presence of genes linked to various cancers, according to a recent study led by researchers at the Perelman School of Medicine at the University of Pennsylvania and the Basser Center for BRCA in Penn’s Abramson Cancer Center. Concern for uncertainty and potential distress were cited among the most common reasons to refuse testing. The results, published in Genetics in Medicine, were released just weeks ahead of an announcement of the online availability of low-cost genetic testing for breast and ovarian cancer mutations. Authors say the results suggest that patients have varying interest in ‘gene panels’ when they are informed of the potential risks and benefits, reflecting the current need for pre-test counseling when genetic panel testing is considered for at-risk patient populations.

“The study found that of the 49 patient participants, all of whom have a family or personal history that puts them at-risk for development breast and other forms of cancer, more than one-third declined multiplex testing. Multiplex testing allows for the simultaneous analysis of alterations in multiple cancer-related genes, and is an alternative to targeted tests that screen for individual forms of cancer. A targeted test might look for inherited mutations in the BRCA1 and BRCA2 genes, for example, which increase the risk of breast, ovarian, and other types of cancer. Some patients also declined the study all together because they were concerned about the uncertainty or distress with testing.”


New Method Detects More Breast Cancer in Screening

“Tomosynthesis detects 40% more breast cancers than traditional mammography does, according to a major screening study from Lund University, Sweden. This is the first large-scale study to compare the screening method with regular mammograms. The 3D X-ray technique is also more comfortable for women, as breast compression is halved.

“A total of 7 500 women aged 40-74 took part in the first half of the study, which formed the basis for the findings.

” ‘We see a change as inevitable. Breast tomosynthesis will be introduced, it is just a question of when and on what scale,’ explains Sophia Zackrisson and Kristina Lång, radiologists at Skåne University Hospital in Malmö and researchers at Lund University.

“Breast tomosynthesis is a three-dimensional X-ray technique that makes it easier to detect tumours in breast tissue. The technique works on the same principle as tomography. This means that X-ray images of the breast are acquired from different angles, which can then show multiple thin layers of the breast. This is compared with a traditional mammography, where all the breast tissue is reproduced in a single image, which can hinder the early detection of tumours.”


Breath Analysis for Lung Cancer Screening Comparable to NLST

“The use of breath analysis for exhaled carbonyl compounds as a lung cancer screening tool is comparable to the results of the National Lung Screening Trial, according to data presented at the American Association for Thoracic Surgery Annual Meeting.

“ ‘We make this conclusion primarily because our stage and histology distribution are similar to that of the NLST,’ Erin M. Schumer, MD, of the University of Louisville, said during a presentation. ‘The breath analysis process is simple, less expensive and limits radiation exposure.’

“Schumer and colleagues conducted a retrospective analysis of 435 patients who were categorized as having lung cancer (n = 162), benign disease (n = 86), or controls (n = 187).

“The researchers collected 1 L of breath in an inert bag from a single exhalation by all patients and analyzed exhaled carbonyl compounds as a screening modality for lung cancer. More than 97% of patients in the lung cancer group had a positive breath analysis vs. 82.6% of the benign group and 32.6% of controls.”


New Genetic Tests for Breast Cancer Hold Promise

“A Silicon Valley start-up with some big-name backers is threatening to upend genetic screening for breast and ovarian cancer by offering a test on a sample of saliva that is so inexpensive that most women could get it.

“At the same time, the nation’s two largest clinical laboratories, Quest Diagnostics and LabCorp, normally bitter rivals, are joining with French researchers to pool their data to better interpret mutations in the two main breast cancer risk genes, known as BRCA1 and BRCA2. Other companies and laboratories are being invited to join the effort, called BRCA Share.

“The announcements being made on Tuesday, although coincidental in their timing, speak to the surge in competition in genetic risk screening for cancer since 2013, when the Supreme Court invalidated the gene patents that gave Myriad Genetics a monopoly on BRCA testing.

“The field has also been propelled by the actress and filmmaker Angelina Jolie, who has a BRCA1 mutation and has written about her own decision to have her breasts, ovaries and fallopian tubes removed to sharply reduce her risk of developing cancer.

“But the issue of who should be tested remains controversial. The effort of the start-up, Color Genomics, to ‘democratize access to genetic testing,’ in the words of the chief executive, Elad Gil, is generating concern among some experts.”


Dogs Sniff out Chemicals Linked to Prostate Cancer

“Researchers in Italy have published a study suggesting that trained dogs can detect chemicals linked to prostate cancer from urine samples.

“The new study, carried out by researchers in the Humanitas Clinical and Research Centre in Milan among others institutes, involved rigorously training two three-year old German Shepherd Explosion Detection Dogs to identify ‘prostate cancer specific volatile organic compounds’ in urine samples.

“The dogs’ identification skills were tested on samples from over 900 men – 362 patients with prostate cancer as well as 540 healthy controls. Researchers worked with an Italian teaching hospital and the Italian Ministry of Defence Military Veterinary Center.

“Medscape reports on the testing procedure: ‘A dog handler walked a single dog in a circle around a series of mesh covered bowls. The dog went around the full circle once, and then on the second go-round, stopped at specific bowls if they contained urine with prostate cancer odours.'”


Aetna, Cigna Balk as Angelina Effect Spurs Genetic Cancer Testing

“Medical researchers call it the ‘Angelina Effect,’ the surge in demand for genetic testing attributable to movie star Angelina Jolie’s public crusade for more aggressive detection of hereditary breast and ovarian cancer.

“But there’s a catch: Major insurance companies including Aetna, Anthem and Cigna are declining to pay for the latest generation of tests, known as multi-gene panel tests, Reuters has learned. The insurers say that the tests are unproven and may lead patients to seek out medical care they don’t need.

“That’s a dangerous miscalculation, a range of doctors, genetic counselors, academics and diagnostics companies said. While they acknowledge that multi-gene tests produce data that may not be useful from a diagnostic standpoint, they say that by refusing or delaying coverage, insurance companies are endangering patients who could be undergoing screenings or changing their diets if they knew about the possible risks.

“The tests have come a long way since Jolie, 39, went public in 2013, revealing that she underwent a double mastectomy after a genetic test found she carried mutations in the BRCA1 and BRCA2 genes, indicating a high risk of breast and ovarian cancer. She disclosed last month that she had her ovaries and fallopian tubes removed.”


Types of Genetic Testing for Melanoma Discussed at AAD (Video)

“In this video, Sancy A. Leachman, MD, PhD,discusses the different types of genetic testing dermatologists use for melanoma at the American Academy of Dermatology Annual Meeting.

“Leachman,professor and chair of the Department of Dermatology at Oregon Health and Science University and director of the melanoma program at Knight Cancer Institute, gave an overview of the three major tests that dermatologists use for genetic screening of melanoma, including predisposition, diagnostic and prognostic testing.

“ ‘When you combine all these genetic tests together, the really exciting thing about that is that we’ll be able to offer our melanoma patients much better information about what needs to be done next [regarding follow-up and possible therapy],’ Leachman told Healio.com/Dermatology.

“ ‘It’s a very exciting time for melanoma and especially for dermatology in melanoma,’ Leachman said. ‘We can be the leaders in terms of how melanoma is approached in the future.’ “