Publications by authors named "Eunike Velleuer"
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Article Synopsis
- * The severity and onset of symptoms can be influenced by lifestyle choices like diet and physical activity, which may improve the immune system and cellular health.
- * This condition could serve as a model for understanding aging in the broader population, with implications for prevention strategies and insights into how diet impacts health and aging processes.
Article Synopsis
- Vitamin D is crucial for regulating the immune system, impacting both innate and adaptive immunity through its active form, 1α,25-dihydroxyvitamin D (1,25(OH)D), which influences gene expression in immune cells via the vitamin D receptor (VDR).
- Immune cells like monocytes, macrophages, and dendritic cells are particularly sensitive to vitamin D, as VDR along with other factors shapes the development of these cells during hematopoiesis.
- The review suggests that individual differences in vitamin D responsiveness are linked to a person's overall immune health, which could help explain vitamin D's role in preventing diseases and promoting healthy aging.
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder with an incidence of 1:300,000, caused by mutations in genes related to DNA repair that lead to severe health issues, including bone marrow failure and increased cancer risk.
- Individuals with FA often exhibit physical abnormalities at birth and face a heightened risk of developing squamous cell carcinoma (SCC) due to the limited effectiveness of traditional cancer treatments.
- To address the challenges of studying FA due to its rarity, researchers propose using multi-level dynamical modeling based on comprehensive data from FA patients, aiming to understand tumorigenesis and improve predictive capabilities for better management and treatment strategies.
Article Synopsis
- - The study focuses on how nutritional molecules and their metabolites influence epigenomic programming in human tissues and cells, affecting long-term cellular functions! - It highlights the role of chromatin, which acts as an epigenetic memory, influenced by dietary components that can change gene expression and impact health, particularly in relation to complex diseases like cancer and metabolic syndrome! - This research introduces the field of nutritional epigenetics, suggesting that our diet can shape epigenetic processes and therefore has significant implications for disease prevention and risk assessment!
Article Synopsis
- - Fanconi anaemia (FA) is a genetic condition that makes DNA repair faulty, leading to chromosome breakage and a significantly higher risk of specific cancers such as head and neck, esophageal, and anogenital squamous cell carcinomas compared to the general population.
- - Research reveals that squamous cell carcinomas from FA patients exhibit numerous structural variants, which include small deletions and complex rearrangements, often occurring alongside loss of the TP53 gene but not related to HPV infections.
- - The instability caused by FA may trigger processes like epithelial-to-mesenchymal transition and heightened inflammatory signaling in skin cells, highlighting the potential for FA's unique genomic issues to inform understanding of sporadic HNSCC linked to tobacco and alcohol
Article Synopsis
- Oral squamous cell carcinomas (OSCCs) can develop in invisible, genetically altered areas of the mouth, often only identifiable by white lesions known as oral leukoplakia (OL).
- A new noninvasive genetic test using next-generation sequencing (NGS) on brushed cells has shown high accuracy in detecting these alterations, even in patients without visible symptoms.
- The study also highlights common genetic mutations in OL, suggesting that noninvasive genetic screening could effectively identify high-risk individuals for oral cancer and monitor disease progression.
Article Synopsis
- Fanconi anemia is a genetic disorder that increases the risk of developing oral squamous cell carcinoma, which can be identified early using oral brush biopsy techniques.
- This study evaluates the effectiveness of a new multi-color fluorescent in situ hybridization (FISH) assay in detecting oral lesions in patients with Fanconi anemia by establishing and validating diagnostic cutoffs.
- The findings indicate that while the multi-color FISH method shows an 87% sensitivity and 82.9% specificity for identifying chromosomal abnormalities, there are concerns regarding false positives that may complicate its use alongside existing diagnostic methods.
Detection of cytogenetic changes and chromosomal aneuploidy with fluorescent in situ hybridization in cytological specimens of oral cancers in Fanconi anemia-Proof of concept.
Bruno Eduardo Silva de Araujo Eunike Velleuer Ralf Dietrich Natalia Pomjanski Isabela Karoline de Santana Almeida Araujo
Clin Exp Dent Res
February 2022
Article Synopsis
- Fanconi anemia (FA) is a genetic disorder that greatly increases the risk of certain cancers, particularly oral squamous cell carcinoma (OSCC), which often precedes visible lesions in the mouth.* -
- This study utilized fluorescent in situ hybridization (FISH) to analyze genetic changes in OSCC specimens and brush biopsies from FA-affected individuals, revealing widespread chromosomal aneuploidy and specific genetic alterations.* -
- The findings suggest that FISH can effectively distinguish between malignant and non-malignant oral lesions in FA patients, highlighting its potential use in cancer detection through oral cytology.*
Article Synopsis
- * Low vitamin D levels are particularly linked to cancers of the colon, prostate, breast, and blood, as it is produced in the body through sunlight exposure on cholesterol.
- * Vitamin D influences cancer by regulating genes related to cell growth and immunity, impacting both tumor cells and immune responses, and the review highlights its potential for cancer prevention and treatment.
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder characterized by malformations at birth, early bone marrow failure, and a heightened risk of cancers like leukemia and squamous cell carcinoma.
- The disease is linked to mutations in 23 genes affecting DNA repair, but even within the same family, patients with the same mutations can have varied symptoms, indicating the role of epigenetics.
- Vitamin D, particularly its active form, influences cell growth and immune function, suggesting that individual vitamin D levels may impact FA's clinical symptoms by modulating epigenetic changes in immune cells.
Article Synopsis
- Individuals with Fanconi anemia (FA) face a significantly higher risk of oral squamous cell carcinoma (SCC) and limited treatment options, making early detection crucial.
- The study evaluated the effectiveness of oral brush biopsy-based cytology over 12 years in a large cohort of 713 FA patients, analyzing 1233 visible oral lesions and using DNA ploidy for inconclusive results.
- Results showed high diagnostic accuracy with a sensitivity of 97.7% and specificity of 84.5% for cytology, which improved to 100% sensitivity when DNA analysis was included, helping to identify early stage oral lesions and reduce the need for invasive procedures.
Article Synopsis
- - Fanconi anemia is a rare genetic disorder that increases the risk of developing squamous cell carcinoma in the head, neck, and anogenital regions, with an 800-fold higher risk compared to the general population.
- - The study investigates whether human polyomaviruses contribute to head and neck cancers in patients with Fanconi anemia using a technique that detects specific viral proteins.
- - Results showed weak detection of these viruses in only 17% of cancer samples, suggesting that human polyomaviruses are likely not a direct cause of the squamous cell carcinomas examined.
Article Synopsis
- The original article had citation errors in referencing its sources.
- The inaccuracies involved mismatches between the citations and the bibliographic details.
- A corrected version of the article has been published to resolve these issues.
Article Synopsis
- Many childhood cancers are linked to cancer predisposition syndromes (CPS), but the causes and recurrence risks are still not well understood.
- A study involving whole-exome sequencing (WES) of parent-child trios was conducted, where 88.3% of families agreed to participate, allowing for the collection of valuable medical and family history data.
- The findings indicate that families are highly interested in genetic testing for CPS and that integrating trio sequencing into pediatric oncology could improve understanding and management of these conditions.
Article Synopsis
- Hereditary congenital facial paresis (HCFP) is a disorder linked to the dysfunction of the seventh cranial nerve, leading to facial muscle weakness and potential additional issues like hearing loss and eye alignment problems.
- HCFP can be related to Möbius syndrome, but the latter also involves restricted eye movement, and both conditions exhibit genetic variation across different chromosome locations, including identified loci on chromosomes 3 and 10.
- A study found a specific mutation in the HOXB1 gene, known to affect cranial development, in affected individuals from a Moroccan family, highlighting its significance in HCFP and suggesting other HOXB1 mutations may also severely impact its regulatory functions.
Article Synopsis
- - The study follows 157 patients with Fanconi anemia who survived at least 2 years after transplantation, with a median follow-up of 9 years, finding that around 80% needed the transplant due to marrow failure.
- - After 2 years, there were 20 deaths, 12 occurring after 5 years, with squamous cell carcinoma being the leading cause of late mortality (8% at 10 years, 14% at 15 years).
- - The survival rates were high, with 90% at 10 years and 79% at 15 years, but factors like pre-2003 transplants and chronic graft-versus-host disease increased mortality risks, highlighting the importance of long-term health
Article Synopsis
- - Fanconi anaemia (FA) is a genetic disorder characterized by sensitivity to DNA damage, resulting in chromosomal instability, developmental issues, bone marrow failure, and a high risk of cancer.
- - A new mutation (g.41022153G>A; p.Ala293Thr) in the RAD51 gene has been identified in an FA-like patient, leading to the development of a new subtype called 'FA-R', which is distinct due to its dominant-negative mutation effect.
- - The patient, who shows signs of microcephaly and mental retardation, has not experienced typical bone marrow issues or childhood cancers, suggesting that RAD51 plays a critical role not only in DNA repair and cancer risk but also in neuro
Fanconi anemia: young patients at high risk for squamous cell carcinoma.
Mol Cell Pediatr
December 2014
Article Synopsis
- Fanconi anemia is a genetic disorder that increases the risk of cancer and has seen advancements in hematopoietic stem cell transplantation, improving survival rates for young patients.
- Despite these advancements, aggressive squamous cell carcinoma (SCC) remains a significant issue for both transplanted and non-transplanted patients.
- The review discusses the underlying mechanisms of SCC development specifically in patients with Fanconi anemia.
Noninvasive molecular screening for oral precancer in Fanconi anemia patients.
Cancer Prev Res (Phila)
November 2015
Article Synopsis
- Loss of heterozygosity (LOH) at specific chromosome arms is linked to oral cancer development and serves as a potential biomarker for monitoring oral precancerous lesions in high-risk patients, including those with Fanconi anemia.
- A study found LOH in 9.9% of nontransplanted Fanconi anemia patients, while none were detected in lower-risk groups, indicating a significant correlation between LOH and head and neck squamous cell carcinoma (HNSCC).
- The LOH assay may need modification for transplanted patients due to interference from donor DNA in oral samples, suggesting further research is needed for effective noninvasive screening in these cases.*
Article Synopsis
- BRCA1- and BRCA2-mutated cancers respond well to PARP inhibitors, prompting researchers to explore other factors influencing this response.
- The study focused on the Fanconi anemia (FA) pathway, which is linked to DNA repair mechanisms, to identify additional predictors of sensitivity to PARP inhibitors.
- Variability in PARP inhibitor sensitivity was observed among different FANCD1/BRCA2-deficient cell lines, with DNA helicases FANCM and DDX11 emerging as key factors affecting treatment response.
Article Synopsis
- * In a study involving a patient with Fanconi anaemia (FA), which increases cancer risk, M. salivarium was found predominantly on the surface of a squamous cell carcinoma of the tongue, contrasting with the microbiome of a patient with benign leukoplakia who had a more typical oral microbiome.
- * The research suggests that M. salivarium could thrive in tumor environments and raises the question of whether it could serve as a biomarker for cancer development
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder that leads to issues like bone marrow failure and increased cancer risk due to mutations in one of 15 FA genes involved in DNA repair.
- In a case study, whole exome sequencing identified two new mutations in the SLX4/FANCP gene of a patient, including a nonsense mutation and a splice site mutation that disrupt protein function.
- Despite the absence of SLX4 protein and its associated interactions, the patient's clinical symptoms were not more severe compared to other known cases of FA-P, showcasing the effectiveness of whole exome sequencing in identifying mutations in complex disorders.
Article Synopsis
- Chromosomal breaks associated with Fanconi anemia (FA), a hereditary syndrome linked to high cancer risk, can also be seen in healthy individuals as fragile sites (FS).
- This study is the first systematic examination of the co-localization between fragile sites and break-points related to Fanconi anemia using molecular cytogenetics.
- Findings revealed that over 82% of analyzed fragile sites align with FA break-points, indicating a unique distribution pattern and suggesting that FA break-points could help map difficult-to-detect fragile sites in future research.