Associated Papers
Semi-automated genomic newborn screening highlights complexities in reporting.
Chowdhury A et al.
Npj Genomic Medicine, 2026
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
Chesneau B et al.
Clinical Genetics, 2026
Clinical, dermoscopic and confocal microscopy features of multiple primary melanomas according to pathogenic germline variant status: a retrospective, hospital-based study.
Spadafora M et al.
Clinical and Experimental Dermatology, 2025
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.
Bilotta A et al.
Genes, 2025
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis.
Lintas C et al.
Lung Cancer (amsterdam, Netherlands), 2025
Multilocus inherited neoplasia allele syndrome (MINAS) in a Turkish cohort: molecular insights and clinical relevance for precision oncology.
Bahsi T et al.
Frontiers in Pharmacology, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Evaluation of Bayesian point-based system on the variant classification of hereditary cancer predisposition genes.
Eldomery MK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.
van der Tuin K et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I et al.
Cancers, 2024
Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.
Silva P et al.
International Journal of Molecular Sciences, 2024
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma.
Bruinsma F et al.
Cancers, 2024
Genetic Testing Uptake among Ovarian Cancer Survivors in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study.
White LL et al.
Cancers, 2024
Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.
Ferrara G et al.
Dermatology Practical & Conceptual, 2024
Inherited Germline Variants in Urinary Tract Cancer: A Multicenter Whole-Exome Sequencing Analysis and Correlation With Clinical Features and Tumor Genomics.
Kohlmann W et al.
Jco Precision Oncology, 2024
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Abu Shtaya A et al.
Genes, 2024
Clinical and Genomic Profile of Primary Cranial Neurolymphomatosis.
Wolf EB et al.
Journal of Blood Medicine, 2024
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
Jensen MR et al.
Hgg Advances, 2023
Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes.
Mahmood K et al.
Gastroenterology, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C et al.
European Journal of Human Genetics : Ejhg, 2023
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.
O'Brien TD et al.
American Journal of Human Genetics, 2023
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Bowling KM et al.
Genome Medicine, 2022
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
Modlin EW et al.
American Journal of Medical Genetics. Part A, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
Potjer TP et al.
Journal of Medical Genetics, 2021
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Vergani E et al.
Genes, 2021
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.
Hubert JN et al.
Cancers, 2021
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.
Smith PS et al.
Genes, Chromosomes & Cancer, 2021
User guide to MiT-TFE isoforms and post-translational modifications.
Vu HN et al.
Pigment Cell & Melanoma Research, 2021
Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.
Koeller DR et al.
The American Journal of Case Reports, 2020
Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Maynard H et al.
Cancer, 2020
Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.
Mighri N et al.
Frontiers in Genetics, 2020
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Senol-Cosar O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
Wieben ED et al.
Investigative Ophthalmology & Visual Science, 2019
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP et al.
International Journal of Cancer, 2019
A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.
Pang X et al.
American Journal of Medical Genetics. Part A, 2019
Exploring the hereditary background of renal cancer in Denmark.
Christensen MB et al.
Plos One, 2019
Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers.
Gironi LC et al.
Archives of Dermatological Research, 2018
Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.
Lowery MA et al.
Journal of the National Cancer Institute, 2018
Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q.
Potrony M et al.
European Journal of Human Genetics : Ejhg, 2018