Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.V1822D
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APC

NM_000038.6:p.V1822D

Associated Papers

Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.

Ahmed A et al.

Bjc Reports, 2025

41198948 (PubMed )
Supplement: 44276_2025_192_MOESM2_ESM.xlsx › Sheet_1

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.

Wan H et al.

Cell Reports. Medicine, 2025

40876452 (PubMed )
Supplement: mmc2.xlsx › TableS3._Nonsilent_mutations

Establishment and genomic profiling of cholangiocarcinoma cells with functional characterization.

Jaidee R et al.

Scientific Reports, 2025

40074934 (PubMed )
Supplement: 41598_2025_93192_MOESM2_ESM.pdf

Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.

Miolo G et al.

International Journal of Molecular Sciences, 2025

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells.

Szakállas N et al.

International Journal of Molecular Sciences, 2025

A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review.

Lu G et al.

Frontiers in Genetics, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.

Wang W et al.

Frontiers in Oncology, 2025

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

Kassem PH et al.

Bmc Medical Genomics, 2024

39123171 (PubMed )
Supplement: 12920_2024_1965_MOESM1_ESM.pdf

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer.

Turnham DJ et al.

Cells, 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 › S11.HighCovVariantsSurvPanel

Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.

Pipek O et al.

International Journal of Molecular Sciences, 2023

37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Kato_III

Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Mangolini A et al.

Cell Biology International, 2022

A Comprehensive Investigation of Steroidogenic Signaling in Classical and New Experimental Cell Models of Adrenocortical Carcinoma.

Sigala S et al.

Cells, 2022

35563746 (PubMed )
Supplement: cells-11-01439-s001.zip › cells-1658167-supplementary.pdf

The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis.

Domingues GAB et al.

Archives of Endocrinology and Metabolism, 2022

Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia.

Kerle IA et al.

Cancers, 2022

35326522 (PubMed )
Supplement: cancers-14-01371-s001.zip › Supplemental_Table_S1_-_Mutations_identified_by_targeted_sequencing_of_plasma_DNA.xlsx › Supplemental_Table_1

Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Metzenmacher M et al.

Translational Oncology, 2022

34800919 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Ng CC et al.

Frontiers in Molecular Biosciences, 2022

36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S9

An advanced molecular medicine case report of a rare human tumor using genomics, pathomics, and radiomics.

Ma L et al.

Frontiers in Genetics, 2022

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

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

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Ghadamyari F et al.

Journal of Clinical Laboratory Analysis, 2021

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB

OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.

Nicholas TJ et al.

Genome Medicine, 2021

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing.

Lee H et al.

Annals of Laboratory Medicine, 2021

Genotypic Characteristics of Hepatoblastoma as Detected by Next Generation Sequencing and Their Correlation With Clinical Efficacy.

Hu H et al.

Frontiers in Oncology, 2021

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

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.

Blackburn PR et al.

Hgg Advances, 2020

35047830 (PubMed )
Supplement: mmc2.xlsx › SL2197-GeneticAnalysis-5_2_0803

An LCM-based genomic analysis of SPEM, Gastric Cancer and Pyloric Gland Adenoma in an Asian cohort.

Srivastava S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Sporadic pediatric severe familial adenomatous polyposis: A case report.

Cerasuolo A et al.

Molecular and Clinical Oncology, 2020

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34
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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."