Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.S371*
Back to variants list

CYLD

NM_001378743.1:p.S371*

Associated Papers

CYLD Alterations Are Associated With Metastasis and Poor Prognosis in Human Papilloma Virus-Positive Head and Neck Cancer.

Cui Z et al.

Head & Neck, 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

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.

Ito T et al.

Scientific Reports, 2023

36869079 (PubMed )
Supplement: 41598_2023_30624_MOESM2_ESM.xlsx › Table_S5

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Berrino E et al.

Genome Medicine, 2022

36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM10_ESM.xlsx › Supplementary_Table_S5

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

CYLD Alterations in the Tumorigenesis and Progression of Human Papillomavirus-Associated Head and Neck Cancers.

Cui Z et al.

Molecular Cancer Research : Mcr, 2021

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM10_ESM.xlsx › Sheet1

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Davies HR et al.

Nature Communications, 2019

31624251 (PubMed )
Supplement: 41467_2019_12746_MOESM3_ESM.xlsx › Sheet1

Targeted sequencing of cancer-related genes in nasopharyngeal carcinoma identifies mutations in the TGF-β pathway.

Chung AK et al.

Cancer Medicine, 2019

31328403 (PubMed )
Supplement: CAM4-8-5116-s010.xlsx › ___1

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA006

Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Bolli N et al.

Leukemia, 2018

29789651 (PubMed )
Supplement: 41375_2018_37_MOESM14_ESM.xlsx › supp_Table1

An extremely rare association of multiple familial trichoepitheliomas and hereditary multiple osteochondromas.

Monteiro AF et al.

International Journal of Dermatology, 2018

Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma.

Lin W et al.

Nature Communications, 2018

Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association.

Dubois A et al.

Acta Dermato-venereologica, 2018

Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers.

Brown SM et al.

The British Journal of Dermatology, 2018

Multiple Familial Trichoepithelioma.

Monteiro AF et al.

Acta Medica Portuguesa, 2018

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.

Tantcheva-Poór I et al.

Dermatology (basel, Switzerland), 2016

The cylindromatosis (CYLD) gene and head and neck tumorigenesis.

Verhoeft KR et al.

Cancers of the Head & Neck, 2016

Phenotype-genotype correlations for clinical variants caused by CYLD mutations.

Nagy N et al.

European Journal of Medical Genetics, 2015

Massively parallel sequencing identifies recurrent mutations in TP53 in thymic carcinoma associated with poor prognosis.

Moreira AL et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2015

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas.

Li ZL et al.

Genetics and Molecular Research : Gmr, 2014

Epithelioid leiomyosarcoma arising in the subcutis--a new case report of a rare variant.

Teixeira V et al.

The American Journal of Dermatopathology, 2014

Three mutations of CYLD gene in Chinese families with multiple familial trichoepithelioma.

Lv H et al.

The American Journal of Dermatopathology, 2014

A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome.

Kacerovská D et al.

Ceskoslovenska Patologie, 2013

A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.

Kacerovska D et al.

The American Journal of Dermatopathology, 2013

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

Grossmann P et al.

The American Journal of Dermatopathology, 2013

Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.

Kazakov DV et al.

The American Journal of Dermatopathology, 2011

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.

van den Ouweland AM et al.

Familial Cancer, 2011

A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.

Kazakov DV et al.

The American Journal of Dermatopathology, 2009

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Blake PW et al.

Human Mutation, 2009

CYLD mutations in familial skin appendage tumours.

Saggar S et al.

Journal of Medical Genetics, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."