Articles tagged with Cancer Genetics
Mutations in the PIK3CA cancer gene drive venous malformations, a common blood vessel abnormality causing painful and disfiguring lesions. Repurposing PI3K-inhibiting cancer drugs may offer a potential therapeutic avenue for patients with these vascular diseases.
Researchers identified a single variant in the p53 gene that contributes to increased cancer risk in African-Americans. This variant makes cancer resistant to cell death and may lead to poor prognosis and treatment outcomes.
Three researchers have received ACGT Young Investigator Grants to develop new treatments for leukemia/lymphoma, melanoma, and blood cancers. Dr. Yvonne Chen aims to improve CAR-T therapy, while Dr. Brent Hanks seeks to block the immune system's ability to destroy cancers using immunotherapy.
Scientists have discovered unique mutations on all cancer cells, known as tumour antigens, which can be targeted by the immune system. This breakthrough could lead to more effective immunotherapies and personalized treatment plans for patients with advanced stages of cancer.
A study published in Neurobiology of Disease found that neurons with a defective DJ1 gene experience oxidative stress and immune response imbalances due to disrupted glutamine and serine metabolism. This knowledge could lead to novel therapeutic strategies by targeting affected metabolic pathways.
Researchers developed a novel brain tumor model in mice with DNA damage-repair problems, which can help test new treatments for children's brain cancer. The model shows that treating tumors with DNA-damaging drugs can shrink them more effectively and improve survival.
A new study published in Cancer Causes & Control found that Latinas who consume processed meats like bacon and sausage have an increased risk of breast cancer. The study also suggests that tuna consumption is associated with breast cancer risk in white women, but not significantly so among Latinas.
A study published in PLOS ONE found a mutation in the APC gene, linked to colon cancer, in an 18th-century Hungarian mummy. The researchers believe that a genetic predisposition to cancer may have already existed in the pre-modern era.
Researchers at St. Jude Children's Research Hospital and the German Cancer Research Center have identified four new subtypes of a rare childhood brain tumor using molecular techniques. This discovery is expected to improve diagnosis accuracy and treatment options for these hard-to-treat cancers.
A new test analyzing cell diversity in tumors can predict survival chances in high-grade breast cancer. The Ecosystem Diversity Index identified aggressive subgroups of breast cancer and was a stronger predictor of survival than established markers.
Rates of BRCA testing have increased among young women with breast cancer, with 87% reporting testing within a year after diagnosis. The high frequency is attributed to comprehensive genetic counseling services available at cancer centers.
Researchers analyze 500 scientific articles to develop a mathematical model for muscle-invasive bladder cancer. They identify potential biomarkers and clinical parameters to accurately determine cancer stage and develop individual treatment strategies.
WSU researchers found that the APOBEC protein can cause genetic mutations in actively replicating DNA, leading to cancer. The study reveals how tumors benefit from the protein's activity, which could inform new treatments targeting its activity.
A Yale study applying evolutionary biology tools sheds light on cancer's genetic origins and tumor progression. The research mapped genetic mutations in normal, primary, and metastatic tumor tissue, revealing that metastases originate from different paths within primary tumors and can diverge early in cancer history.
Researchers discovered that TBX5 mutations lead to the inappropriate activation of cancer and neural genes in the developing heart, contributing to congenital heart disease. The study provides insight into how patients develop heart disease and a roadmap for future studies on other genetic defects.
A study found that HER2-positive lung cancer is caused by either gene amplification or mutation, rather than both. This distinction implies the need for different treatment options, including targeted therapies approved for breast cancer.
Researchers discovered an inherited genetic marker associated with less favorable melanoma survival, while another variant showed a stronger correlation with better survival. These findings could lead to the development of personalized treatment plans for high-risk patients.
The University of Chicago Medicine will receive a $5 million donation from the Hospira Foundation to create the Hospira Foundation Professorship in Oncology. This professorship will support research aimed at discovering new therapies and treatments for cancer.
A new study uses natural laws to predict how cancers evolve over time, potentially leading to personalized treatment. The research suggests that doctors could use mathematical formulas to anticipate a cancer's growth and development, enabling them to choose the most effective treatments.
A new study from MSK highlights the fertility concerns of young adult and adolescent cancer survivors, with nearly half reporting uncertainty about their reproductive health. The researchers emphasize the need for more comprehensive fertility-related information and support services in survivorship care.
A study published in the Journal of the National Cancer Institute found that women carrying an inherited BRIP1 gene fault are over three times more likely to develop ovarian cancer. The research also showed that these women tend to be diagnosed with aggressive cancers at a later age and have a higher risk of dying from the disease.
When cells are exposed to mitochondrial damage, AMPK sends an emergency alert instructing them to break apart into tiny fragments. This process helps recycle damaged pieces and promotes mitochondrial health.
Leonard I. Zon, MD, has made outstanding contributions to the field of cancer genetics with his work on stem cell biology and zebrafish research. His discoveries have led to the development of novel therapeutics for leukemia and melanoma, which are now being evaluated in clinical trials.
Researchers have discovered that the DNA-binding protein Foxd3 acts as a genetic traffic signal, holding stem cells in readiness for transformation during early embryonic development. This discovery sheds light on how development works and has important implications for understanding developmental and adult diseases.
A study of 200,000 twin individuals found an increased cancer risk among those whose co-twin was diagnosed with cancer. The risks varied by type and were higher for monozygotic twins.
The study found an excess familial risk for almost all types of cancer, including breast and prostate cancer, as well as more rare forms like testicular cancer and melanoma. Researchers estimated that having a twin sibling diagnosed with cancer increases the other twin's risk of developing any type of cancer.
A team has identified a second genetically distinct transmissible cancer in Tasmanian devils, which causes facial tumours indistinguishable from the previously discovered cancer. The discovery raises questions about the rarity of transmissible cancers and the vulnerability of Tasmanian devils to developing this type of disease.
A study published in PLOS Genetics found that members of four unrelated US families shared an identical BAP1 gene mutation, which increases cancer risk. The researchers traced the ancestral connection back to a couple who immigrated from Germany in the early 1700s.
Researchers discovered a BAP1 mutation in four unrelated US families, suggesting a possible link between the gene and various cancers. The study's findings have important implications for cancer prevention and early detection, particularly for melanomas.
Research from the University of Pennsylvania School of Medicine found that pre- and post-test counseling for genetic mutations increases knowledge and decreases anxiety in BRCA-negative patients. After testing, most women reported declines in general anxiety and improvements in genetic knowledge.
Researchers found that different regions of a single tumor shared varying levels of genetic mutations, ranging from 67% to 93%. This variation could make it harder for targeted therapies to work effectively. The study's findings have significant implications for treatment recommendations and patient care.
A new study has shown that human embryonic stem cells are fit for use in patients, paving the way for clinical trials of cell therapies. The research also establishes a cost-effective approach for monitoring the quality of stem cell-based products and emerging cell therapies.
A recent study found that 8.5% of children with cancer have genetic mutations increasing their risk, highlighting the need for improved counseling and family testing. The study's author, Dr. John M. Maris, emphasizes the importance of understanding how other genes interact with these mutations to cause cancer in children.
Researchers have discovered a new genetic cause of childhood kidney cancer, Wilms tumour, linked to mutations in the REST gene. The study found that REST mutations occur in about 10% of familial cases and can be detected through simple blood tests, providing valuable information for families affected by the disease.
A new study of over 25,000 men has identified four new genetic variants associated with an increased risk of testicular cancer. Testing for these variants combined with existing knowledge has revealed that men in the top one per cent of genetic risk have a ten-fold elevated risk of developing testicular cancer.
Researchers discovered a protein called Zmiz1 that sticks to the Notch gene, triggering its cancer function. Deleting Zmiz1 from Notch eliminates the cancer effect while preserving normal health functions.
Researchers at Children's Hospital of Philadelphia identified a signaling network involving three cancer-causing genes that drive high-risk neuroblastoma. The study found that variants in the LIN28B gene generate abnormal signals that regulate RAN and AURKA proteins, leading to uncontrolled cell growth.
A new five-gene signature, MG5, identifies high-risk children with aggressive forms of the disease, suggesting personalized treatment options. The test has been validated in samples from 68 patients and could lead to improved survival rates and reduced side effects.
Scientists engineered stem cells with PTPN11 mutations to recreate JMML, clarifying early events in its development and providing new targets for drug design. This 'leukemia in a dish' model can help improve treatment options for patients with this rare blood cancer.
A national study by University of South Florida researchers and Aetna found that only 36.8% of women received genetic counseling before BRCA testing, with Obstetrician/Gynecologists having the lowest rates. Women who received counseling demonstrated greater knowledge and satisfaction.
A recent study has discovered five new genetic variants associated with brain cancer, including one that increases the risk of glioblastoma by nearly a quarter. These findings provide important clues for developing new treatments against the disease and offer hope for personalized medicine in the future.
Researchers found that fatty liver disease and scarring have a significant genetic component, with heritability rates of around 50%. The study used twin analysis to show that monozygotic twins were more likely to share similar levels of fat content and liver stiffness.
A study of 1,000 breast cancer patients found genetic differences between primary tumours and recurring cancers. The research identified potential targets for new therapies, including JAK inhibitors, to prevent cancer recurrence.
Researchers have identified a specific location in the enhancer that, when cut, leads to increased production of fetal hemoglobin. This breakthrough may pave the way for developing gene editing approaches for treating sickle cell disease and related hemoglobin disorders.
A new study reveals that nearly half of testicular cancer risk comes from inherited genetic faults, significantly higher than in most other cancer types. The research suggests testing for specific genetic variants could help identify patients at substantially increased risk and potentially lead to prevention methods.
A University of Colorado Cancer Center study identified a specific ratio of MET to centromere 7 that defines patients with MET-driven lung cancer susceptible to crizotinib treatment. This threshold has been associated with responses approaching 70 percent in clinical trials.
The new 2015 WHO Classification of Lung Tumors provides standard criteria for pathology diagnosis and clinical practice. The updated classification focuses on histologic subtyping and classification according to predominant subtype, leading to multiple new discoveries in lung adenocarcinoma.
The new Northwestern University Center for Cancer Nanotechnology Excellence will use nucleic-acid-based nanoconstructs called Spherical Nucleic Acids (SNAs) to discover new aspects of cancer biology and create effective cancer treatment options. SNAs are nontoxic to humans, offering a versatile tool in medicine.
A recent study by H. Lee Moffitt Cancer Center researchers found a significantly higher frequency of BRCA mutations in young black women with breast cancer, particularly among those under 50. This discovery may contribute to the disparity in aggressive breast cancer rates among black women compared to non-Hispanic white women.
A new genetic test identified nine key genes that can predict which myeloma patients are at risk of developing aggressive disease, leading to the development of personalized treatment plans. The test shows promise in identifying patients who may benefit from intensive treatment and improving survival rates.
A study found that multigene panel testing identified harmful mutations in moderate-risk genes and Lynch syndrome genes among 3.8% of women negative for BRCA1 and BRCA2 mutations. The test also recommended additional disease-specific screening and prevention measures for mutation-positive cases.
Worcester Polytechnic Institute researcher Amity Manning is awarded $747,000 from the National Institutes of Health to explore molecular mechanisms driving genetic instability in cancer cells. The goal is to turn the genetic tables against cancer by understanding how specific molecules affect DNA packaging and organization.
Researchers at Cedars-Sinai Medical Center have identified a novel genetic biomarker responsible for the progression of breast and prostate cancers. This discovery may aid clinicians in identifying patients who will respond better to common chemotherapy drugs that target aggressive forms of cancer.
Scientists at MD Anderson Cancer Center discovered the critical role of fumarase enzyme in DNA repair, revealing a key mechanism for reversing genetic damage leading to cancer and therapy resistance. The study's findings have potential implications for developing new cancer treatments by inhibiting DNA-PKs and fumarase.
A new model suggests that evolutionary pressures from healthy tissue keep cells with cancerous mutations in check. The study proposes that the ecosystem of a healthy tissue landscape allows healthy cells to outcompete those with cancerous mutations, but when this balance changes due to aging or stressors, cancer cells can thrive.
Researchers found that 35% of patients with early-onset colorectal cancer (diagnosed before age 35) have a genetic disease, highlighting the need for genetic counseling to identify high-risk family members. Gene panel testing is recommended to uncover underlying mutations, allowing for preventive measures and earlier screening.
Researchers have uncovered how key proteins can switch on RAD51, allowing it to repair cancer-causing DNA damage in cells. Women with faulty RAD51 and BRCA1 and BRCA2 genes are at higher risk of developing these cancers.
A portable 'paper machine' uses DNA analysis and detection to diagnose infectious diseases, genetic conditions, and cancer in resource-limited areas. The device costs less than $2 total and can detect as few as five cells of E. coli using ultraviolet light and a smartphone camera.
Scientists have identified key genetic mutations leading to skin cancer progression, similar to those found in human cancers. By analyzing genetic abnormalities in premalignant and fully malignant tumors, researchers found that larger chromosomal copy number alterations were responsible for tumor formation, rather than point mutations.
A study found an inverse association between the risk of endometrial cancer in women with Lynch syndrome and later age of first menstrual cycle, increased parity, and hormonal contraceptive use. Women with the genetic condition may be counseled like the general population regarding hormonal influences on endometrial cancer risk.