Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.K546K
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KIT

NM_000222.3:p.K546K

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Next-Generation DNA Sequencing of Grade 1 Meningioma Tumours: A Case Report of Angiomatous and Psammomatous Meningiomas.

Taher MM et al.

Cureus, 2024

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.

Taher MM et al.

Cureus, 2023

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

Endometrial Carcinoma: Molecular Cytogenetics and Transcriptomic Profile.

Brunetti M et al.

Cancers, 2022

35884597 (PubMed )
Supplement: cancers-14-03536-s001.zip › Table_S2..xlsx › Sheet1

The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Richter A et al.

Cells, 2022

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients.

Jasek K et al.

Journal of Cancer Research and Clinical Oncology, 2021

Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Cattaneo D et al.

Frontiers in Oncology, 2021

33791220 (PubMed )
Supplement: Data_Sheet_1.pdf

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients.

Nassar A et al.

Journal of Advanced Research, 2020

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Wang M et al.

Respiratory Research, 2020

32054482 (PubMed )
Supplement: 12931_2020_1314_MOESM1_ESM.xlsx › S6

Genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next-generation sequencing reflects the diversity of the final histopathologic diagnosis.

Borowczyk M et al.

Polish Archives of Internal Medicine, 2019

Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

D'Oronzo S et al.

Scientific Reports, 2019

31754145 (PubMed )
Supplement: 41598_2019_53660_MOESM1_ESM.pdf

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Arock M et al.

Leukemia, 2015

The overexpression of KIT proto-oncogene in acute leukemic cells is not necessarily caused by the gene mutation.

Szatkowski D et al.

Acta Haematologica, 2015

Genetic variation at KIT locus may predispose to melanoma.

Bourillon A et al.

Pigment Cell & Melanoma Research, 2013

The prevalence of the c-kit exon 10 variant, M541L, in aggressive fibromatosis does not differ from the general population.

Grabellus F et al.

Journal of Clinical Pathology, 2011

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