Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R216*
Back to variants list

APC

NM_000038.6:p.R216*

Associated Papers

Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.

Cammarota F et al.

Biomedicines, 2026

Negative Selection Maintains Grossly Altered but Broadly Stable Karyotypes in Metastatic Colorectal Cancer.

Cross WCH et al.

Cancer Discovery, 2026

41563072 (PubMed )
Supplement: cd-24-0813_supplementary_table_7_suppst7.xlsx › C282

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

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

Clinical utility of longitudinal circulating tumor DNA analysis in metastatic colorectal cancer patients receiving palliative chemotherapy.

Oh CR et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

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

Chan-Pak-Choon F et al.

The Journal of Pathology, 2025

Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.

Eberhard A et al.

Iscience, 2025

41142998 (PubMed )
Supplement: mmc5.xlsx › Table_S4

Analysis of IDH1 and IDH2 mutations as causes of the hypermethylator phenotype in colorectal cancer.

Ward JC et al.

The Journal of Pathology, 2025

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

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

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.

Yang M et al.

Npj Precision Oncology, 2025

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_MOESM2_ESM.pdf

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Nakamura Y et al.

Nature Medicine, 2025

39284955 (PubMed )
Supplement: 41591_2024_3244_MOESM2_ESM.xlsx › Suppementary_Table_1

Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.

Bozsik A et al.

Critical Reviews in Oncology/hematology, 2025

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 › d_Exp-data

Longitudinal Comparative Analysis of Circulating Tumor DNA and Matched Tumor Tissue DNA in Patients with Metastatic Colorectal Cancer Receiving Palliative First-Line Systemic Anti-Cancer Therapy.

Lee SB et al.

Cancer Research and Treatment, 2024

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.

Büki G et al.

International Journal of Molecular Sciences, 2024

Interplay between WNT/PI3K-mTOR axis and the microbiota in APC-driven colorectal carcinogenesis: data from a pilot study and possible implications for CRC prevention.

Di Paola FJ et al.

Journal of Translational Medicine, 2024

38970018 (PubMed )
Supplement: 12967_2024_5305_MOESM1_ESM.docx

Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.

Franco PI et al.

Jco Global Oncology, 2024

NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.

Verzè M et al.

The Journal of Liquid Biopsy, 2024

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

Trexler M et al.

Scientific Reports, 2024

Genomic landscape of diploid and aneuploid microsatellite stable early onset colorectal cancer.

Zhou Y et al.

Scientific Reports, 2024

APC/PIK3CA mutations and β-catenin status predict tankyrase inhibitor sensitivity of patient-derived colorectal cancer cells.

Chen M et al.

British Journal of Cancer, 2024

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

Ma JY et al.

Biorxiv : the Preprint Server for Biology, 2023

A one-stop approach to diagnosing hereditary colorectal cancer in the Chinese population.

Li C et al.

Journal of Gastroenterology and Hepatology, 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

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

Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.

van 't Erve I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36534496 (PubMed )
Supplement: ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx › ST10

Unexplained mismatch repair deficiency: Case closed.

Eikenboom EL et al.

Hgg Advances, 2023

36624813 (PubMed )
Supplement: mmc1.pdf

Immunochemotherapy achieved a complete response for metastatic adenocarcinoma of unknown primary based on gene expression profiling: a case report and review of the literature.

Sheng J et al.

Frontiers in Immunology, 2023

Differences in genome, transcriptome, miRNAome, and methylome in synchronous and metachronous liver metastasis of colorectal cancer.

Horak J et al.

Frontiers in Oncology, 2023

37182133 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_S2.xlsx › Sheet1

Epithelial TGFβ engages growth-factor signalling to circumvent apoptosis and drive intestinal tumourigenesis with aggressive features.

Flanagan DJ et al.

Nature Communications, 2022

36477656 (PubMed )
Supplement: 41467_2022_35134_MOESM4_ESM.xlsx › Figure_1c

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

35098669 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Huang F et al.

Scientific Reports, 2022

35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2C
1–50 of 187 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."