Researchers at the University of British Columbia (UBC), BC Cancer, Harvard Medical School, and Memorial Sloan Kettering Cancer Center (MSK) have identified early genetic alterations in healthy women’s breast cells that could be among the first steps leading to breast cancer. The findings, published today in Nature Genetics, suggest that…

Researchers from the University of Chicago and the University of California, San Francisco, have uncovered a key mechanism driving genetic instability in aggressive cancers: collisions between DNA replication and transcription processes. The findings, published in Nature Cancer, shed light on how these collisions cause large tandem duplications (TDs)—a specific type…

Researchers at Rockefeller University have uncovered a key mechanism that helps maintain proper telomere length, a discovery that has significant implications for understanding and potentially treating various diseases, including cancer and telomere-related disorders. The study, published in Cell, sheds light on how the CST–Polα/primase complex is recruited to telomeres, the…

A next-generation sequencing (NGS)-based mutation signature more accurately detects mismatch repair deficiency, which can lead to microsatellite instability, than immunohistochemistry (IHC), according to research from a team lead by Amin Nassar, MD, of Yale Cancer Center.  Notably, Nassar and team saw that some cancer patients featuring mismatch repairs missed by…

Scientists at the University of Cambridge and the National Cancer Research Center in Madrid have identified 17 genetic signatures that reveal the complex underlying causes of some of the deadliest cancers and could help develop new personalized cancer treatments. Chromosomal instability is a hallmark of cancer, occurring in around 80%…

Epic Sciences, a diagnostics company applying a novel approach to classifying prostate and breast cancers to help guide therapy and detect disease recurrence announced it will partner with Fulgent Genetics for comprehensive genomic profiling of patients with metastatic breast cancer (MBC). The deal will leverage Fulgent’s CAP/CLIA next-generation sequencing capabilities…

Men with rare mutations in a gene that can cause some cells to lose the Y chromosome have a more than 6-fold increased risk for type 2 diabetes, according to researchers based at the University of Cambridge. The team found that men with mutations in the GIGYF1 gene also had…

A new set of genetic biomarkers of lung cancer were recently identified by researchers at the Wake Forest School of Medicine, part of Wake Forest Baptist Health, that the team says could inform more personalized treatment of this prevalent type of cancer. Their study “Recruitment of KMT2C/MLL3 to DNA damage…

Sophia Genetics has obtained the CE-IVD marking for its Solid Tumor Solution (STS), a molecular diagnostic application designed to precisely detect and characterize all types of genomic alterations in 42 clinically relevant genes associated with a range of solid tumors. Those solid tumors include lung, colorectal, skin and brain cancers.…

Circadian rhythms are regular, daily variations in some of our biological functions and behaviors that are key to health and mental wellbeing. A research team at the University of Glasgow has now identified a potential genetic link between disrupted circadian rhythms and mood disorders, including major depressive disorder (MDD) and…

Detection and analysis of structural variability within chromosomes have become an integral part of genomic medicine. Because genomic instability and chromosomal abnormalities characterize cancer as well as many developmental diseases, understanding these structural aberrations can provide insight into disease etiology, treatment options, and prognosis. According to physicians, current cytogenetic tests…

Using large proteogenomic datasets, novel renal cell carcinoma (RCC) biomarkers were found in a new study led by University of Michigan Health Rogel Cancer Center researchers. The team carried out integrative analysis of datasets from both non-clear cell and clear cell RCC. Their findings should improve researchers’ ability to diagnose subtypes…

Researchers led by Didier Trono’s group at EPFL have uncovered a crucial survival tactic employed by cancer cells. The scientists identified a group of proteins, known as KRAB zinc finger proteins (KZFPs), that help cancer cells maintain genetic stability and avoid immune system detection. The team’s findings are published in…

Researchers at the University of Maryland School of Medicine (UMSOM) have discovered that a protein from the mycoplasma bacterium species may cause genetic instability leading to reduced fertility and birth defects in mice models. With over 100 different species, mycoplasma is a unique bacterium responsible for several symptoms and infections…

Researchers at the Francis Crick Institute and University College London (UCL) Cancer Institute have demonstrated that a test called the ORACLE can better predict clinical outcomes for patients with early-stage lung cancer than current methods. The findings, published in Nature Cancer, could allow doctors to identify which patients with stage…