Genome-wide association studies (GWAS) have identified more than 150 genetic variations associated with increased risk for breast cancer. Most of these variants are not located in protein-coding gene regions but are assumed to regulate the expression of certain genes.
One way to figure out what these variants are doing is to conduct a cis-eQTL analysis. That’s a way of detecting changes in the expression of genes presumably regulated by a nearby variant.
Using four large-scale data sets from normal and cancerous breast tissue samples, Xingyi Guo, PhD, and colleagues identified 101 candidate breast cancer susceptibility genes with variant-associated gene expression changes. In breast cancer cells grown in culture, the researchers also demonstrated how three genes promoted tumour growth by disrupting normal cell behaviour.
Their findings reveal potential target genes associated with an increased risk of breast cancer and provide additional insights into the underlying genetic and biological mechanisms that drive this common cancer.

Vanderbilt Universitynews.vanderbilt.edu/2018/05/04/new-breast-cancer-targets/

New tests to detect early Lyme disease – which is increasing beyond the summer months –could replace existing tests that often do not clearly identify the infection before health problems occur.
In an analysis, scientists from Rutgers University, Harvard University, Yale University, National Institute of Allergy and Infectious Diseases of the NIH and other academic centres, industry and public health agencies say new diagnostic methods offer a better chance for more accurate detection of the infection from the Lyme bacteria.
“New tests are at hand that offer more accurate, less ambiguous test results that can yield actionable results in a timely fashion,” said Steven Schutzer, a physician-scientist at Rutgers New Jersey Medical School and senior author. “Improved tests will allow for earlier diagnosis which should improve patient outcomes.”
Lyme disease is the most common tick-borne infection in North America and Europe.  There are currently over 300,000 cases of Lyme disease annually in the United States alone and the disease is increasing and spreading into new regions.  Lyme disease frequently, but not always, presents with a bull’s-eye rash. When the rash is absent, a laboratory test is needed.
The only FDA-approved Lyme disease tests, based on technology developed more than two decades ago, rely on detecting antibodies that the body’s immune system makes in response to the disease.  These antibody-based tests are the most commonly used tests for Lyme disease and are the current standard.
One problem, however, is that many people produce similar – called “cross-reactive” – antibodies in response to other bacteria not associated with Lyme disease, which causes confusing results and makes test accuracy more difficult.
“New tests are more exact and are not as susceptible to the same false-positive or false-negative results associated with current tests,” said Schutzer.
Schutzer and his colleagues say more accurate testing would help doctors decide when to prescribe the antibiotics used to clear the infection and help avoid severe long-term health problems. Antibody tests can take three weeks or more for the antibody levels to reach a point where the tests can pick up a positive result.
Those involved in the paper joined forces after meeting at Cold Spring Harbor Laboratory’s Banbury Center, a non-profit research institution in New York.  The meeting organized and chaired by Schutzer and John A. Branda, assistant professor of pathology at Harvard Medical School, focused on current Lyme disease tests and new scientific advances made in increasing the accuracy of the diagnosis.
Rutgers Universityhttps://tinyurl.com/ya2mpslr

ELITechGroup, a leading company in sample-to-result molecular diagnostics, and R-Biopharm, a globally active life science company, have announced a worldwide agreement to strengthen their positions in molecular infectious disease testing. Under this agreement, R-Biopharm and ELITechGroup will cooperate in the development, production and marketing of Real-Time PCR reagents.
“We are very pleased to have won R-Biopharm as a partner to expand our molecular diagnostics portfolio.” said Christoph Gauer, CEO of ELITechGroup. “This collaboration will contribute to complete the menu of our sample-to-result system ELITe InGenius^®. We will increase the overall number of CE-IVD assays from currently 23 to 33 by the end of 2018 making ELITe InGenius® the system with the broadest CE-IVD menu on the market.”
“Collaborating with ELITechGroup will leverage and strengthen the position of R-Biopharm in the field of Molecular Diagnostics, stated Ralf Dreher, CEO of R-Biopharm. As Molecular Diagnostics is one key pillar within the cross divisional strategy in the R-Biopharm Group, we are confident that this partnership will contribute significantly towards the overall success of the company.”
www.elitechgroup.comwww.r-biopharm.de

Women diagnosed with breast cancer may benefit from having the molecular subtype of different cells within their tumours identified, argue two researchers. While breast cancer is often treated as a whole, they discuss the growing consensus that cancer cells within a tumour can have multiple origins and respond variably to treatment. The authors advocate for the development of more accurate diagnostic tests to capture molecular irregularities between tumour cells.
"Breast tumours are moving targets because they are really versatile," says Jun-Lin Guan, Francis Brunning Professor and Chair of the Department of Cancer at the University of Cincinnati College of Medicine and member of the Cincinnati Cancer Center and UC Cancer Institute, who co-authored the paper with postdoctoral fellow Syn Kok Yeo. "If you use a treatment that’s targeting one subtype, which kills one type of breast cancer, often the other kind will actually expand. That defeats the purpose of treatment."
Breast cancer cells differ by the types of molecular markers, some of which are found on their surface, which physicians can test to understand the characteristics of a patient’s cancer and devise the best treatment strategy. For example, women with the HER2+ breast cancer subtype generally have a poorer prognosis than those with the luminal A tumours because of how quickly the cells multiply. Often tumour samples are taken and screened for the most common markers present, but Guan and Yeo’s analysis of human and rodent studies raises the possibility that overlapping subtypes are being missed.
They advocate for diagnostic testing to be combined with single-cell technologies, in which individual cells, rather than a collection, are screened for molecular markers. However, as they currently exist, single-cell approaches are expensive and require specialized expertise, so they would not be realistic for regular patient screenings.
"What we’re talking about is still not widely used in practice–there’s a gap between basic cancer research and the clinics that do the diagnoses," Guan says. "However, single-cell technologies are advancing very quickly, so it’s possible that we can see them being used in the near future."
The researchers put forward that the co-existence of distinct breast cancer subtypes within tumors happens because a fraction of breast cancer cells retain many stem cell-like qualities and thus reserve the capability to easily change. This has been observed in human cancer cells and in rodent studies but has yet to be confirmed in patients. Single-cell analysis could assess whether this problem is common or rare in humans.
EurekAlert
www.eurekalert.org/pub_releases/2017-10/cp-raf101917.php

Cervical fluid samples gathered during routine Papanicolaou (Pap) tests are the basis of a new screening test for endometrial and ovarian cancers developed by researchers at the Johns Hopkins Kimmel Cancer Center.
PapSEEK detects mutations in DNA that have been identified for specific cancers sooner. Earlier detection of cancer could lead to earlier treatment and potentially better outcomes for patients.
The test uses cervical fluid samples to look for mutations in 18 genes, which are highly or commonly mutated in endometrial or ovarian cancers, and aneuploidy, the presence of abnormal numbers of chromosomes in cells. The researchers said their results showed the potential for mutation-based diagnostics to detect endometrial and ovarian cancers earlier.
“More than 86,000 U.S. cases of endometrial and ovarian cancer were diagnosed in 2017. Treatment often involves surgery and, in some cases, chemotherapy or radiation,” said Amanda Nickles Fader, M.D., director of the Johns Hopkins Kelly Gynecological Oncology Service, Department of Gynecology and Obstetrics, and a corresponding author on this study.
“Additionally for young women who are diagnosed, loss of fertility is common. If we could detect the cancer earlier using a test like PapSEEK, the potential to achieve more cures and preserve fertility in select women could be realized.”
Most cancers are curable if they are detected early, and the researchers are exploring ways to use cancer gene discoveries to develop cancer screening tests to improve cancer survival. They announced the development of CancerSEEK, a single blood test that screens for eight cancer types, and UroSEEK, a test that uses urine to detect for bladder and upper tract urothelial cancer.
PapSEEK targets the most common and most lethal gynaecological cancers, endometrial and ovarian cancer. There is currently no screening test for endometrial cancer and, due to the obesity epidemic, it is on the rise, particularly in younger women.
“Gynaecological cancers are responsible for approximately 25,000 deaths per year and are the third leading cause of cancer-related mortality,” said Nickolas Papadopoulos, Ph.D., a senior author and an investigator at the Ludwig Center at Johns Hopkins. “Most of the deaths are caused by tumours that metastasize prior to the onset of symptoms. With PapSEEK, we are aiming to detect these cancers early when they are most curable.”
Since fluid from the Pap test occasionally contains cells from the endometrium or ovaries, researchers found they could detect cancer cells from these organs that are present in the fluid.
John Hopkins Kimmel Cancer Centerwww.hopkinsmedicine.org/news/media/releases/pap_test_fluids_used_in_gene_based_screening_test_for_two_gyn_cancers