ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: hereditary neuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Mutations in anaplastic lymphoma kinase (ALK) are implicated in somatic and familial neuroblastoma, a pediatric tumor of neural crest-derived tissues. 29317532 2018
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE The diversity of biological behavior of familial neuroblastoma harboring a germline ALK mutation may depend on conventional prognostic factors, such as segmental chromosomal alterations and MYCN amplification, rather than additional acquired mutations. 30350464 2018
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Approximately 1-2% of neuroblastomas are inherited in an autosomal dominant fashion and a combination of co-morbidity and linkage studies has led to the identification of germline mutations in PHOX2B and ALK as the major genetic contributors to this familial neuroblastoma subset. 29589100 2018
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Recent advanced genomic sequencing technology has revealed that mutation of ALK, which is present in ~10% of primary tumors, often causes familial neuroblastoma with germline mutation. 29378002 2018
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE The discovery of gain-of-function mutations in the ALK receptor tyrosine kinase gene as the major cause of familial neuroblastoma led to the discovery of identical somatic mutations and rapid advancement of ALK as a tractable therapeutic target. 28458126 2017
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE In this study, we show that the novel ALK inhibitor alectinib effectively suppressed cell proliferation and induces apoptosis in NB cell lines with either wild-type ALK or mutated ALK (F1174L and D1091N) by blocking ALK-mediated PI3K/Akt/mTOR signaling. 28455243 2017
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Germline ALK activating mutations are responsible for the majority of hereditary neuroblastoma and somatic ALK activating mutations are also frequently observed in sporadic cases of advanced NB. 26786851 2016
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE The discovery of activating kinase domain mutations of the full-length ALK receptor as the major cause of hereditary neuroblastoma, and that somatically acquired mutations and amplification events often drive the malignant process in a subset of sporadic tumors, has established ALK as a tractable molecular target across histologically diverse tumors in which ALK is a critical mediator of oncogenesis. 26503946 2016
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Included in these genetic alterations are mutations in the kinase domain of the anaplastic lymphoma kinase (ALK) receptor tyrosine kinase (RTK), which have been found in both somatic and familial neuroblastoma. 23104988 2013
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Universal mass screening for neuroblastoma is not indicated but targeted screening of infants at risk of hereditary neuroblastoma with germline ALK or PHOX2B mutations is appropriate. 22673527 2012
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE The genetic etiology of rare families with hereditary neuroblastoma is now largely understood, with the majority having activating mutations in the anaplastic lymphoma kinase (ALK) gene. 21504710 2011
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma. 21734404 2011
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Moreover, germline mutations of ALK were shown to be responsible for the majority of hereditary neuroblastoma. 21205076 2011
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Large-scale analyses using a variety of genetic tools also discovered a major familial neuroblastoma predisposition gene ALK, as well as new candidate susceptibility genes at 6q22 and 2q35 for sporadic neuroblastoma. 20731666 2010
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 Biomarker disease GENOMICS_ENGLAND Our results demonstrate that heritable mutations of ALK are the main cause of familial neuroblastoma, and that germline or acquired activation of this cell-surface kinase is a tractable therapeutic target for this lethal paediatric malignancy. 18724359 2008
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 GeneticVariation disease BEFREE Our results demonstrate that heritable mutations of ALK are the main cause of familial neuroblastoma, and that germline or acquired activation of this cell-surface kinase is a tractable therapeutic target for this lethal paediatric malignancy. 18724359 2008
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 Biomarker disease GENOMICS_ENGLAND