Articles tagged with Germlines
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A secondary analysis of the WISDOM trial found a substantial number of women with clinically actionable genetic variants, many not qualifying for current guidelines. This study supports broader access to genetic testing for personalized breast cancer risk assessment.
A new gene editing technique, P3a mutagenesis, achieves near 100% success in creating precise DNA mutations. This method simplifies protein engineering, accelerating biomedical research and reducing costs.
Researchers identified 5.05% of individuals carrying pathogenic variants in key cancer susceptibility genes, highlighting a significant association between these genetic variations and increased cancer risk. The study suggests that more extensive genetic screening for these genes may be warranted to identify high-risk individuals.
Researchers at The University of Osaka developed an mRNA therapy that restored sperm production and achieved the birth of viable offspring in a mouse model. This treatment showed promise for treating non-obstructive azoospermia, a genetic condition causing male infertility.
A recent study found that germline variants can significantly impact protein behavior in cancer cells, driving tumor development and progression. Researchers identified 119 rare and common variants in key cancer genes that alter protein structure and abundance.
A study uncovered new genetic clues explaining why some prostate cancers grow slowly while others become life-threatening, identifying 223 mutations that determine tumor progression. The research shows germline and somatic variability work together to initiate and drive prostate cancer.
Genetic testing for cancer risk should always include healthcare providers and genetic counseling to ensure users fully understand their results and receive proper guidance. The authors call on the FDA to provide clear rules for using these tests, particularly for minors.
A new study reveals that benzyl butyl phthalate (BBP) causes oxidative stress and DNA strand breaks, leading to cell death and abnormal chromosomes in egg cells. The research suggests that BBP exposure can lead to lower quality egg cells with compromised genomic integrity.
Researchers found that CHEK2 variants do not increase colorectal cancer risk compared to controls. Three low-risk missense variants were identified as potential drivers of breast cancer risk variability.
A recent study found that Chinese patients with ovarian cancer often carry a specific variant of the RAD51D gene, which can promote tumor growth. The variant also makes these patients more sensitive to PARP inhibitors, leading to a favorable prognosis and potential new treatment methods.
Researchers highlight DDX41's distinct contribution to myeloid neoplasms with germline predisposition. The discovery sheds light on unique pathogenesis and disease phenotype associated with DDX41 variants.
A new plant gene drive system, CRISPR-Assisted Inheritance (CAIN), has been developed to enhance trait inheritance in plants. The system uses a toxin-antidote mechanism to override Mendelian inheritance, allowing for the spread of beneficial genes at higher rates.
Families with germline CDH1 P/LP variants show a cumulative risk of gastric cancer between 7-10% and breast cancer in female carriers at 37%
Adult carriers of BAP1 tumor predisposition syndrome show a high incidence of onychopapillomas, a benign nail tumor. This finding suggests using these skin abnormalities to identify family members and patients with cancers associated with the syndrome.
A new study reveals sex-specific effects of germline regulation on longevity and somatic repair in vertebrates. Removing the germline extends male lifespan and improves stress resistance in females.
Women with germline BRCA pathogenic variants face increased risk of mortality from postpartum breast cancer, particularly those diagnosed under 10 years after giving birth. The study highlights the importance of genetic counseling and tailored prevention strategies for these high-risk individuals.
Young breast cancer survivors without germline pathogenic variants are at lower risk for developing a second primary breast cancer within the first decade after diagnosis. This study informs treatment decision-making and follow-up care considerations in this population.
Researchers at IMBA discovered a parent-of-origin effect in nematodes, suggesting the first step in genomic imprinting's evolution. This finding provides insight into how imprinting arose independently in mammals and plants over 100 million years ago.
A new study published in Oncotarget reveals a higher prevalence of germline BRCA1 and BRCA2 mutations in ovarian cancer patients from the Salento peninsula, with 28.6% having familial cases and 39.7% having sporadic cases. The study found that 29.8% of patients were carriers of BRCA1/2 mutation.
Researchers found that impaired mitochondrial unfolded protein response causes accelerated telomere shortening in both oocytes and somatic cells of aging mice. This study highlights the link between loss of mitochondrial protein homeostasis, infertility, and somatic aging.
Researchers from Osaka University and University of Hawaii found that environmental microorganisms boost fruit fly reproduction by modifying hormone levels and increasing the production of germline stem cells. This discovery could lead to new avenues for improving reproductive health and fertility treatments.
The Association for Molecular Pathology published a report outlining considerations for a slice testing strategy, including gene selection and quality. This approach combines the advantages of high-quality gene panels with flexibility and broad scope of exome sequencing.
Researchers identified a correlation between the HSD3B1 biomarker and resistance to combined hormone therapy and radiotherapy in men with prostate cancer. The study found that high levels of the enzyme led to increased testosterone production, promoting resistance to treatment.
The study demonstrates that concurrent DNA and RNA sequencing improves the detection of novel variants in individuals undergoing hereditary cancer testing, expanding identification of those with hereditary cancer predisposition. This advancement enables personalized therapeutics and surveillance for these individuals.
Researchers discovered that nine percent of esophageal adenocarcinoma patients harbor cancer-predisposing gene mutations, which may trigger progression from Barrett's esophagus. This finding supports the idea that genetic testing can help risk-stratify EAC patients and potentially accelerate development of new treatments.
A recent study found that germline genetic testing after cancer diagnosis is underutilized, with rates significantly lower among Asian, Black, and Hispanic patients compared to non-Hispanic whites. The study, published in JAMA, suggests disparities in access to genetic testing by race.
The Association for Molecular Pathology (AMP) has published a report establishing evidence-based recommendations for orthogonal confirmation practices of germline variants detected by next-generation sequencing. The guidelines aim to promote standardization, transparency, and quality improvement among laboratories.
A recent study published in JNCCN found that the lack of genomic research for people with African ancestry is hindering efforts to reduce disparities in prostate cancer outcomes. The researchers evaluated molecular genetic results for 113 Black South African men diagnosed with advanced prostate cancer, identifying 17 pathogenic and pot...
A new study led by Mayo Clinic researchers found that women carrying specific genetic changes, such as BRCA1 and BRCA2, have a twofold increased risk of developing contralateral breast cancer. Premenopausal women with these mutations are more likely to develop cancer in both breasts.
A study by Rockefeller University scientists found that older male fruit flies are more likely to pass mutations onto their offspring due to less efficient mutation repair mechanisms. This could have implications for inherited-disease risk in humans.
Research found that male rats exposed to ifosfamide during adolescence had offspring and grand-offspring with increased incidence of diseases, including kidney and testis problems. The study's epigenetic analysis revealed changes passed down through sperm and ova, indicating a potential risk for future generations.
Researchers analyzed germline variants in breast cancer patients to identify their role in metastasis development. The study found that host genetic makeup contributes to metastasis through dysregulation of gene expression, promoting the dispersion of metastatic seeds and establishing a conducive environment for their growth.
Researchers at Kyoto University's Institute Advanced Study of Human Biology (WPI-ASHBi) have gained new insights into how totipotency is programmed in germline cells. They found that DNA methyl groups are removed and DNA strands are unwound to create a 'clean slate' for embryo development, while also building insulation to prevent earl...
Research in C. elegans reveals that intestinal stress signals can control oocyte chromosome stability, influencing egg quality control and heritable euploidy. This study opens new possibilities for eliminating environmental influences and preventing malformations.
Researchers have identified a germline biomarker signature that can predict serious side effects in up to 3 in 10 patients undergoing anti-PD1/PDL1 therapy. The findings represent an important step toward personalizing checkpoint therapy, potentially improving patient outcomes and reducing harm.
Researchers have discovered that marine worms must develop a certain number of body segments before forming their original reproductive cells. This finding could have major implications for human stem-cell research and infertility treatments.
Researchers at the University of Tsukuba discovered a male-biased protein expression in primordial germ cells of fruit flies. The study used the Gal4-UAS system to induce gene expression and found that male cells had more protein synthesis occurring, with stronger GFP expression.
A recent study by Monash Biomedicine Discovery Institute has discovered a conserved syndecan protein that coordinates communication between the germline and the rest of the body. This mechanism is required for germ cells to divide correctly, generating offspring.
Ben Ouagrham-Gormley is researching ethical issues related to human germline genome editing, a key aspect of China's global scientific strategy. The researcher will analyze data and conduct interviews with Chinese and U.S. scientists and government officials.
A new study from the University of Bergen reveals that targeted therapy using PARP inhibitors can be effective in treating early-stage triple negative breast cancers. The study found a significant response rate among patients not harboring germline mutations, highlighting a potential for improved personalized treatment.
The study identified 42 deleterious variants in 35 genes among patients with small cell lung cancer, including MLH1, BRCA2, and MUTYH germline mutations. These variants were associated with increased risk of first-degree relatives with cancer or lung cancer and longer recurrence-free survival following platinum-based chemotherapy.
New research reveals viruses, especially endogenous retroviruses, shape evolution by driving gene expression and fine-tuning species-specific transcriptomes. This has significant implications for clinical practice, particularly in understanding male infertility and birth defects.
Researchers at McGill University have discovered that bacteria and carpenter ants collaborated to alter the development of the ant embryo, creating a single complex life form. The study reveals that this integration occurred in a series of steps, with the bacteria exploiting existing genetic loci within the ant embryos.
A study by University of Utah Health found that genetic mutations accumulate at an accelerating rate during puberty, affecting lifespan and fertility. Young adults with slower rates of mutation accumulation lived about five years longer than those with faster rates.
Patients with germline or somatic mutations in DNA repair genes showed better clinical outcomes after platinum-based chemotherapy. These mutations were found in genes such as BRCA1, BRCA2, and PALB2, which are involved in a form of DNA repair known as homologous recombination.
Researchers from the University of Tsukuba identified Myc as a central molecular actor in eliminating damaged germline cells to preserve germline integrity. Knockdown of Myc resulted in a similar germline-loss phenotype, suggesting its role in quality control during embryonic development.
A new Cleveland Clinic study evaluates germline genomic profiles in C-AYA patients with solid tumors, revealing a significant proportion carry heritable cancer-predisposing gene variants. The research highlights the need for genetics evaluation and genetic testing to inform management and treatment options.
Scientists from Japan's University of Tsukuba discovered a regulatory pathway governing the first quiescence period in Drosophila germline cells. This break is crucial for pole cell migration and gamete development. The study confirmed that the two rest periods are essential for Drosophila germline development.
Researchers at Uppsala University sequenced a chromosome in zebra finches called the germline-restricted chromosome (GRC), finding it tens of millions of years old and crucial for songbird biology. The GRC plays a key role in early embryonic development and protects somatic cells from negative effects.
A new peer-reviewed journal discusses human genome editing's pros and cons, including concerns over non-Mendelian conditions and governance. The CRISPR Journal special issue explores various topics, from germline editing to gene therapy, with recommendations for democratic governance.
A unique immune system found in koalas protects their DNA from viruses, opening a new field of research. This 'immune response' helps prevent the spread of diseases like chlamydia and cancer.
Researchers at UMass Medical School and the University of Queensland identified a novel genetic defense system in koalas that controls retrovirus production through germline cells. This innate genome immune response recognizes viral RNAs via anti-sense piRNAs, suppressing assembly of viral particles.
The CRISPR Journal publishes special issue on human genome editing ethics, exploring governance, moratoriums, and access. Experts argue for democratic governance and against imposing moratoriums, highlighting the need to regulate germline editing for safety and efficacy.
Researchers have developed a rapid CRISPR-Cas13 detection system for agricultural applications, enabling trait screening and pest surveillance. A new library-based assay predicts Cas9 specificity, addressing off-target effects in gene editing therapies.
Shoukhrat Mitalipov, a germline gene therapy pioneer, argues that existing regulations can be strengthened to allow safe treatment. His 17-year-old son Paul also co-authored the editorial, highlighting the importance of understanding gene editing for non-scientists.
A new article recommends explicit management of conflict of interests, banning exclusive rights to research results, and enhanced informed consent to guide germline gene editing. The author argues that regulation and penalties are necessary to ensure public trust in science.
Sarah Brnich, an MD-PhD student, received the award for her work on classifying germline genetic variants by their functional consequence. Her research aims to improve clinical variant interpretation and incorporate functional data into guidelines.
The NIH supports an international moratorium on clinical germline editing due to safety, ethical, and philosophical concerns. The call comes after irresponsible research in China, where twins were born with altered DNA before implantation.
A global moratorium on heritable genome editing is proposed by a group of international scientists and ethicists due to safety concerns and the need for societal consensus. The proposal aims to establish an international framework and provide time for public discussions before germline editing is permitted.
Scientists found that an ancient and unrelated endogenous retroviral element is inserting itself into the new retrovirus via recombination, deactivating it. This process may be a molecular defense mechanism of hosts against new retroviral attacks.