Associated Papers
The Impact of FSHR Mutations on Female Ovarian Function and Pregnancy Outcomes: A Systematic Review.
Qu Z et al.
Biology of Reproduction, 2025
17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?
William D et al.
Esmo Gastrointestinal Oncology, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Somatic mutations in the TG and RELA genes specific for radioiodine-refractory thyroid cancer.
Sukprakun C et al.
Scientific Reports, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 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
Association of genetic alterations with prognosis in extramammary Paget disease: insights into the involvement of somatic CDKN2A variants in patients with a poor prognosis.
Iwasawa O et al.
The British Journal of Dermatology, 2024
Retrospective study of germline variants in patients with hereditary melanoma study criteria in a real clinical practice setting.
Villa-Gonzalez JM et al.
Clinical and Experimental Dermatology, 2024
Undifferentiated Carcinoma with Osteoclast-like Giant Cells of the Pancreas: Molecular Genetic Analysis of 13 Cases.
Hrudka J et al.
International Journal of Molecular Sciences, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.
Roccuzzo G et al.
Cancers, 2023
RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.
Jbara A et al.
Nature, 2023
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z et al.
Frontiers in Oncology, 2023
NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.
Ramakrishnan G et al.
Cell Reports, 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
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.
Yang Y et al.
Bmc Cancer, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 2021
Post-radiation circulating tumor DNA as a prognostic factor in locally advanced esophageal squamous cell carcinoma.
Jia R et al.
Oncology Letters, 2021
A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.
Conroy JM et al.
Plos One, 2021
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Aoude LG et al.
Scientific Reports, 2020
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
Outcomes in oncogenic-addicted advanced NSCLC patients with actionable mutations identified by liquid biopsy genomic profiling using a tagged amplicon-based NGS assay.
Remon J et al.
Plos One, 2020
Applied precision medicine in metastatic pancreatic ductal adenocarcinoma.
Taghizadeh H et al.
Therapeutic Advances in Medical Oncology, 2020
Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.
Esfahani MS et al.
Nature Communications, 2019
Driver Mutations in Normal Airway Epithelium Elucidate Spatiotemporal Resolution of Lung Cancer.
Kadara H et al.
American Journal of Respiratory and Critical Care Medicine, 2019
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Yurgelun MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Genomic Evolution after Chemoradiotherapy in Anal Squamous Cell Carcinoma.
Mouw KW et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.
Kiel MJ et al.
Nature Communications, 2015
Genomic landscape of cutaneous T cell lymphoma.
Choi J et al.
Nature Genetics, 2015
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
Nikolaou V et al.
The British Journal of Dermatology, 2011
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F et al.
Journal of the National Cancer Institute, 2010
Novel presentation of a familial pancreatic cancer syndrome.
Maker AV et al.
Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract, 2009
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
Pastorino L et al.
Pigment Cell & Melanoma Research, 2008
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Goldstein AM et al.
Journal of Medical Genetics, 2007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM et al.
Cancer Research, 2006
MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.
Niendorf KB et al.
Journal of Medical Genetics, 2006
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
High frequency of ultraviolet mutations at the INK4a-ARF locus in squamous cell carcinomas from psoralen-plus-ultraviolet-A-treated psoriasis patients.
Kreimer-Erlacher H et al.
The Journal of Investigative Dermatology, 2003
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT et al.
Journal of the National Cancer Institute, 2002
Mutation screening of the CDKN2A promoter in melanoma families.
Harland M et al.
Genes, Chromosomes & Cancer, 2000
CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas.
Holland EA et al.
Genes, Chromosomes & Cancer, 1999