ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

scientific article published on 17 May 2019

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma is …
instance of (P31):
scholarly articleQ13442814

External links are
P819ADS bibcode2019NatCo..10.2213R
P356DOI10.1038/S41467-019-09979-0
P932PMC publication ID6525246
P698PubMed publication ID31101826

P50authorAlena PanceQ56800115
Chris BakalQ60665055
Mark J ArendsQ39067830
P2093author name stringDavid J Adams
Arno Rütten
Steven D Billings
Jason L Hornick
Jennifer S Ko
Nicolas de Saint Aubain
Louise van der Weyden
Carla Daniela Robles-Espinoza
James Hewinson
Thomas Mentzel
Paul W Harms
Rajiv M Patel
Mamunur Rashid
Sandra Louzada
Bostjan Luzar
Thomas Brenn
Francesca Butera
Guia Cerretelli
Ingrid Ferreira
Marie Abi Daoud
Michiel van der Horst
Sofia Chen
Zlatko Marusic
P2860cites workA map of human genome variation from population-scale sequencingQ24617794
Mutational processes molding the genomes of 21 breast cancersQ24620915
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
Analysis of protein-coding genetic variation in 60,706 humansQ26831376
A method and server for predicting damaging missense mutationsQ27860835
The Sequence Alignment/Map format and SAMtoolsQ27860966
Identification of the familial cylindromatosis tumour-suppressor geneQ28145560
The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitinationQ28201717
The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamilyQ43709450
Universal Patterns of Selection in Cancer and Somatic TissuesQ46278243
An evolutionary perspective on field cancerization.Q50020845
Morphologically low-grade spiradenocarcinoma: a clinicopathologic study of 19 cases with emphasis on outcome and MYB expression.Q53170129
Universal Patterns of Selection in Cancer and Somatic Tissues.Q55279563
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control DataQ57023926
ALPK1 expression is associated with lymph node metastasis and tumor growth in oral squamous cell carcinoma patientsQ57477625
Malignant eccrine spiradenoma (spiradenocarcinoma): a clinicopathologic study of 12 casesQ73688019
p53 mutations in sweat gland carcinomasQ74525606
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromesQ80146442
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndromeQ82521643
The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindromaQ84208174
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypesQ88432323
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentQ28589137
Signatures of mutational processes in human cancerQ29547191
SIFT: Predicting amino acid changes that affect protein functionQ29547211
TERT promoter mutations in familial and sporadic melanomaQ29614920
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short readsQ29617402
Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data.Q30860570
cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS DataQ31147548
Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.Q34103901
Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencingQ35178113
Predicting the functional impact of protein mutations: application to cancer genomicsQ35224321
Spectrum of NSD1 mutations in Sotos and Weaver syndromesQ35442715
Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skinQ35752935
DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolutionQ36603133
Function and cancer genomics of FAT family genes (review)Q36642936
Clock-like mutational processes in human somatic cellsQ36666868
Germline polymorphisms in genes involved in the Hippo pathway as recurrence biomarkers in stages II/III colon cancer.Q36689794
The Impact of DNA Methylation in Hematopoietic MalignanciesQ36724810
Overexpression of MYB drives proliferation of CYLD-defective cylindroma cellsQ36908116
ALPK1 genetic regulation and risk in relation to gout.Q36963567
Multiple giant pilomatricoma in familial Sotos syndrome.Q37096193
CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel.Q37396615
Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neckQ37413472
CYLD: a tumor suppressor deubiquitinase regulating NF-kappaB activation and diverse biological processesQ37448141
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.Q37449698
ERN1 and ALPK1 inhibit differentiation of bi-potential tumor-initiating cells in human breast cancerQ37696305
Cylindroma of head and neck: review of the literature and report of two rare casesQ38069297
Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathwaysQ38350224
Update on Malignant Sweat Gland TumorsQ39288029
Lymphocyte α-kinase is a gout-susceptible gene involved in monosodium urate monohydrate-induced inflammatory responses.Q39493628
An inactivating CYLD mutation promotes skin tumor progression by conferring enhanced proliferative, survival and angiogenic properties to epidermal cancer cellsQ39656299
A novel independence test for somatic alterations in cancer shows that biology drives mutual exclusivity but chance explains most co-occurrenceQ42350797
Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome.Q42448917
Spiradenocarcinoma, cylindrocarcinoma and spiradenocylindrocarcinoma: a clinicopathological study of nine casesQ42458377
Down-regulated and Commonly mutated ALPK1 in Lung and Colorectal CancersQ42735319
IntOGen: integration and data mining of multidimensional oncogenomic dataQ43567682
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)2213
P577publication date2019-05-17
P1433published inNature CommunicationsQ573880
P1476titleALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
P478volume10

Reverse relations

cites work (P2860)
Q90317692Do not break a sweat: avoiding pitfalls in the diagnosis of sweat gland tumors
Q90781411Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome