Characterization of novel germline c-kit gene mutation, KIT-Tyr553Cys, observed in a family with multiple gastrointestinal stromal tumors (Q39443146)

12 September 2017

title

Characterization of novel germline c-kit gene mutation, KIT-Tyr553Cys, observed in a family with multiple gastrointestinal stromal tumors (English)

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12 September 2017

Mayumi Nakai

1

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12 September 2017

Yuka Hashikura

2

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12 September 2017

Mizuka Ohkouchi

3

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12 September 2017

Masahiro Yamamura

4

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12 September 2017

Takashi Akiyama

5

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12 September 2017

Kazuhiro Shiba

6

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12 September 2017

Noriko Kajimoto

7

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12 September 2017

Yoshitane Tsukamoto

8

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12 September 2017

Hiroyuki Hao

9

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12 September 2017

Koji Isozaki

10

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12 September 2017

Toshihiro Hirai

11

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12 September 2017

Seiichi Hirota

12

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12 September 2017

publication date

14 November 2011

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12 September 2017

published in

Laboratory Investigation

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12 September 2017

volume

92

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12 September 2017

issue

3

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12 September 2017

page(s)

451-457

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Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors

12 September 2017

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W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity

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Disturbed intestinal movement, bile reflux to the stomach, and deficiency of c-kit-expressing cells in Ws/Ws mutant rats

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Expression of the intermediate filament nestin in gastrointestinal stromal tumors and interstitial cells of Cajal

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Ano1 is a selective marker of interstitial cells of Cajal in the human and mouse gastrointestinal tract

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ETV1 is a lineage survival factor that cooperates with KIT in gastrointestinal stromal tumours

21 January 2018

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Identification of a ligand for the c-kit proto-oncogene

21 January 2018

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KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors

21 January 2018

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Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder

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Somatic activation of KIT in distinct subtypes of melanoma

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Mutations in exons 9 and 13 of KIT gene are rare events in gastrointestinal stromal tumors. A study of 200 cases

21 January 2018

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Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours

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c-kit gene mutation at exon 17 or 13 is very rare in sporadic gastrointestinal stromal tumors

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21 January 2018

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Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor

21 January 2018

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Secondary mutations in the kinase domain of the KIT gene are predominant in imatinib-resistant gastrointestinal stromal tumor

21 January 2018

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Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor

21 January 2018

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21 January 2018

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Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors

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Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa

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Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene

21 January 2018

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Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia

21 January 2018

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Multiple gastrointestinal stromal tumors with a germline c-kit mutation.

21 January 2018

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Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling

21 January 2018

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Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis

21 January 2018

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Gastrointestinal stromal tumors: insights from a new familial GIST kindred with unusual genetic and pathologic features

21 January 2018

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A new familial GIST identified

21 January 2018

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Multiple gastrointestinal stromal tumors: Clinicopathologic and genetic analysis of 12 patients

21 January 2018

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Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation

21 January 2018

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Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y.

21 January 2018

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Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?

21 January 2018

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Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women

21 January 2018

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Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncol

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

Primary structure of c-kit: relationship with the CSF-1/PDGF receptor kinase family--oncogenic activation of v-kit involves deletion of extracellular domain and C terminus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Late resistance to imatinib therapy in a metastatic gastrointestinal stromal tumour is associated with a second KIT mutation

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Familial Gastrointestinal Stromal Tumor Syndrome: Phenotypic and Molecular Features in a Kindred

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https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation

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https://api.crossref.org/works/10.1038%2FLABINVEST.2011.165

7 January 2021

10.1038/LABINVEST.2011.165

Identifiers

DOI

1 reference

12 September 2017

1 reference