Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.
Yamaguchi T et al.
Japanese Journal of Clinical Oncology, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.
Fiasconaro CA et al.
Diseases (basel, Switzerland), 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 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
Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.
Tovar-Parra D et al.
International Journal of Molecular Sciences, 2025
CDK4 loss-of-function mutations cause microcephaly and short stature.
Verdu Schlie A et al.
Genes & Development, 2025
Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.
Kypreou K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.
Lin Y et al.
Frontiers in Oncology, 2024
Next-generation sequencing uncovers crucial mutated genes and potential therapeutic targets in ovarian cancer patients.
Zhao T et al.
American Journal of Translational Research, 2024
Alkylating Agent-Induced High Tumor Mutational Burden in Medullary Thyroid Cancer and Response to Immune Checkpoint Inhibitors: Two Case Reports.
Moog S et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling.
Kiyozumi Y et al.
Journal of Human Genetics, 2023
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
Present status of germline findings in precision medicine for Japanese cancer patients: issues in the current system.
Higashigawa S et al.
Japanese Journal of Clinical Oncology, 2022
Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.
Cani AK et al.
Molecular Oncology, 2022
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Karachaliou GS et al.
Bmc Cancer, 2022
Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.
Zocchi L et al.
Journal of Clinical Medicine, 2021
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Tsui DWY et al.
Genome Medicine, 2021
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.
De Simone P et al.
International Journal of Molecular Sciences, 2020
Comprehensive Analysis of PTEN in Primary Cutaneous Melanoma.
Němejcová K et al.
Folia Biologica, 2020
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Integrative omics analyses broaden treatment targets in human cancer.
Sengupta S et al.
Genome Medicine, 2018
Patterns of genomic evolution in advanced melanoma.
Birkeland E et al.
Nature Communications, 2018
A novel germline mutation in CDK4 codon 24 associated to familial melanoma.
Bottillo I et al.
Clinical Genetics, 2018
Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.
Chen Q et al.
Oncotargets and Therapy, 2018
Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.
Gress A et al.
Oncogenesis, 2017
Functional variomics and network perturbation: connecting genotype to phenotype in cancer.
Yi S et al.
Nature Reviews. Genetics, 2017
Germline gene polymorphisms predisposing domestic mammals to carcinogenesis.
Flisikowski K et al.
Veterinary and Comparative Oncology, 2017
HLA class I loss in metachronous metastases prevents continuous T cell recognition of mutated neoantigens in a human melanoma model.
Schrörs B et al.
Oncotarget, 2017
Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.
de Unamuno Bustos B et al.
Scientific Reports, 2017
Comparative study on driver mutations in primary and metastatic melanomas at a single Japanese institute: A clue for intra- and inter-tumor heterogeneity.
Kaji T et al.
Journal of Dermatological Science, 2017
PRMT5 competitively binds to CDK4 to promote G1-S transition upon glucose induction in hepatocellular carcinoma.
Yang H et al.
Oncotarget, 2016
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
Mangas C et al.
The British Journal of Dermatology, 2016
Islet biology, the CDKN2A/B locus and type 2 diabetes risk.
Kong Y et al.
Diabetologia, 2016
Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.
Ibarrola-Villava M et al.
Oncotarget, 2016
Targeting human melanoma neoantigens by T cell receptor gene therapy.
Leisegang M et al.
The Journal of Clinical Investigation, 2016