Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R1114*
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APC

NM_000038.6:p.R1114*

Associated Papers

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

Targeting PTPN13 with 11-amino-acid peptides of C-terminal APC prevents immune evasion of colorectal cancer.

Ma WH et al.

Cell Research, 2026

41486293 (PubMed )
Supplement: 41422_2025_1206_MOESM11_ESM.xlsx › Sheet1

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.

Chan-Pak-Choon F et al.

The Journal of Pathology, 2025

Single-cell RNA profiling reveals an immunosuppressive microenvironment in EGFR double-mutant non-small cell lung cancer.

Yang J et al.

Translational Lung Cancer Research, 2025

41234595 (PubMed )
Supplement: tlcr-14-10-4235-supplementary.pdf

Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.

Nieminen TT et al.

Bmc Cancer, 2025

41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › Ad_II.4_FCCX-W

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Mutational Analysis of Early, Low-Grade Bowel Polyps Defines a Subgroup with Concurrent, High-Risk Oncogenic Drivers Independent of Polyp Size.

Li J et al.

Cancer Research Communications, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_23

Genomic landscape of clinically acquired resistance alterations in patients treated with KRASG12C inhibitors.

Riedl JM et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025

Germline genomic profiling of patients with early-onset colorectal cancer.

Mauri G et al.

Esmo Gastrointestinal Oncology, 2025

Performance Comparison of Droplet Digital PCR and Next-Generation Sequencing for Circulating Tumor DNA Detection in Non-Metastatic Rectal Cancer.

Szeto S et al.

Cancer Medicine, 2025

40346007 (PubMed )
Supplement: CAM4-14-e70943-s001.docx

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM4_ESM.pdf

MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.

Kaczorowski M et al.

The Journal of Pathology. Clinical Research, 2025

40105034 (PubMed )
Supplement: CJP2-11-e70025-s003.xlsx › Table_S2

Circulating Tumor DNA Dynamics and Clinical Outcome in Metastatic Colorectal Cancer Patients Undergoing Front-Line Chemotherapy.

Ghidini M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Genomic alterations in the WNT/β-catenin pathway and resistance of colorectal cancer cells to pathway-targeting therapies.

Voutsadakis IA

Exploration of Targeted Anti-tumor Therapy, 2025

IDENTIFICATION OF CLINICALLY RELEVANT GENE VARIANTS IN COLON ADENOCARCINOMA SAMPLES OF UKRAINIAN PATIENTS USING A COMPREHENSIVE CANCER PANEL: A PILOT STUDY.

Gerashchenko G et al.

Experimental Oncology, 2024

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Basyuni S et al.

Nature Communications, 2024

39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › Oxford_cohort

Clinical features associated with NeoRAS wild-type metastatic colorectal cancer A SCRUM-Japan GOZILA substudy.

Osumi H et al.

Nature Communications, 2024

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Arginines of the CGN codon family are Achilles' heels of cancer genes.

Trexler M et al.

Scientific Reports, 2024

Multiple hepatoblastomas with positive β-catenin immunostaining as a potential indication for germline APC genetic testing: A case report.

Sato T et al.

Congenital Anomalies, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_8

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.

Terlouw D et al.

Genes, Chromosomes & Cancer, 2024

Negative response to immunotherapy in dMMR or MSI-H gastric cancer with APC and PTEN mutations: a case report.

Liu J et al.

Frontiers in Oncology, 2024

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort

Deciphering the Functional Roles of Individual Cancer Alleles Across Comprehensive Cancer Genomic Studies.

Ma JY et al.

Biorxiv : the Preprint Server for Biology, 2023

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

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

One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids.

Geurts MH et al.

Nature Communications, 2023

Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).

Richards CE et al.

International Journal of Molecular Sciences, 2023

37445722 (PubMed )
Supplement: ijms-24-10545-s001.zip › PTPN11_paper_supplementary_tables_25042023.pdf

Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer.

Manirakiza F et al.

Current Issues in Molecular Biology, 2023

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Pan-cancer clinical impact of latent drivers from double mutations.

Yavuz BR et al.

Communications Biology, 2023

36808143 (PubMed )
Supplement: 42003_2023_4519_MOESM3_ESM.xlsx › VariantClasses

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf
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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."