Associated Papers
Population-based Characterization of PTEN Hamartoma Tumor Syndrome.
Ni Y et al.
Research Square, 2026
Common gene mutations in 103 authenticated colorectal cancer cell lines.
Kranjec C et al.
Oncogenesis, 2026
Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.
Tibarewal P et al.
Disease Models & Mechanisms, 2026
Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.
Plitt G et al.
Surgery, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Population-based Characterization of PTEN Hamartoma Tumor Syndrome.
Idumah G et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
Beyond colonoscopy, faecal DNA mutation screening provides a potential and viable path to early colorectal cancer detection.
Alfaro-Núñez A et al.
Scientific Reports, 2025
Infantile epileptic spasms syndrome associated with a PTEN variant.
Samanta D
Acta Neurologica Belgica, 2025
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.
Baroutis KG et al.
Eye (london, England), 2025
Cowden Syndrome With a Co-existing Lynch Syndrome Risk Mutation.
Alajaimi A et al.
Cureus, 2025
High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.
Zambelli V et al.
Endocrine Pathology, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Contribution of Germline Predisposition to Pediatric Thyroid Cancer.
Harrison C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Gene actionability according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) in No Specific Molecular Profile (NSMP) endometrial cancer.
Mastrantoni L et al.
Esmo Open, 2025
Comprehensive genomic profiling of Taiwanese triple-negative breast cancer with a large targeted sequencing panel.
Huang CC et al.
Journal of the Chinese Medical Association : Jcma, 2025
Mutation profile and chromosomal abnormality in adenomyosis.
Suda K et al.
Reproduction (cambridge, England), 2025
Detection of PTEN Mutations in Fine Needle Aspiration Biopsies of Indeterminate Thyroid Nodules: Impact on Diagnosis and Prognosis.
Schlegel LE et al.
Head & Neck, 2025
PTEN and novel TEK germline variants associated with the phenotypes of PTEN hamartoma tumor syndrome.
Chen H et al.
Genes & Diseases, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Ewing sarcoma of the rib with a rare PTEN mutation.
Fallon P et al.
Cancer Genetics, 2025
Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 2025
UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.
Tian S et al.
Genomics, Proteomics & Bioinformatics, 2025
Dominant Negative PTEN Alterations in Endometrial Carcinoma Are Associated With Retained Immunohistochemical PTEN Expression.
Keyhanian K et al.
The American Journal of Surgical Pathology, 2025
Systematic comprehension of genomics and mutational landscape of glioma: A goal towards advanced therapeutics.
Dakal TC et al.
Neuroscience, 2025
Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes.
Torices L et al.
Iubmb Life, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.
DeSpenza T et al.
Nature Neuroscience, 2025
Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
Richters L et al.
Jama Network Open, 2025
Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.
Farshid G et al.
Pathology, 2025
Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.
Li Q et al.
Pediatric Neurology, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
Cowden Syndrome and Oral Lesions: A Case Report Using MLPA.
Barrón-Márquez MC et al.
The American Journal of Case Reports, 2025
Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.
Huang J et al.
Frontiers in Immunology, 2025
Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.
Maeda Y et al.
Surgical Case Reports, 2025
Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.
Hall MJ et al.
Frontiers in Oncology, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025