Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R554*
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APC

NM_000038.6:p.R554*

Associated Papers

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

Two cases of genetic testing for familial adenomatous polyposis without a family history.

Makutani Y et al.

International Cancer Conference Journal, 2025

Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.

Dos Santos Luciano MC et al.

Clinical Genetics, 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

Subclonal response heterogeneity to define cancer organoid therapeutic sensitivity.

Kratz JD et al.

Scientific Reports, 2025

Human colonic organoids for understanding early events of familial adenomatous polyposis pathogenesis.

Laborde N et al.

The Journal of Pathology, 2025

39641466 (PubMed )
Supplement: PATH-265-26-s001.xlsx › Table_S1

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

Clinical and Molecular Characteristics of a Female Familial Adenomatous Polyposis Patient With Adenomatous Polyposis Coli (APC) p.Arg554* Variant and the Value of Screening Her Relatives.

Jinda W et al.

Cureus, 2024

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

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

Trexler M et al.

Scientific Reports, 2024

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

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

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

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

Identification of Genomic Alterations in Thai Patients With Colorectal Cancer Using Next-Generation Sequencing-Based Multigene Cancer Panel.

Jinda W et al.

Cureus, 2023

Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma.

Zheng Y et al.

Frontiers in Pharmacology, 2023

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

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

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C et al.

American Journal of Human Genetics, 2022

35460607 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_cfDNA

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

Tumour-Derived Cell Lines and Their Potential for Therapy Prediction in Patients with Metastatic Colorectal Cancer.

Wagner S et al.

Cancers, 2021

34572946 (PubMed )
Supplement: cancers-13-04717-s001.zip › cancers-1355846-supplementary.xlsx › Table_S3_SNVs

NGS-Based Analysis of Atypical Deep Penetrating Nevi.

Manca A et al.

Cancers, 2021

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

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

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.

Kim JE et al.

Experimental & Molecular Medicine, 2021

33753878 (PubMed )
Supplement: 12276_2021_583_MOESM1_ESM.zip › 210226_BJX6JPRP_EMM2020836R_Supplelemtary_table_merged__1_.xls › Supplementary_Table_3

APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Aitchison A et al.

Cancers, 2020

Prevalence of APC and PTEN Alterations in Urachal Cancer.

Nagy N et al.

Pathology Oncology Research : Por, 2020

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Hayashi H et al.

Cancer Science, 2020

32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S2

Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Mateo L et al.

Genome Medicine, 2020

32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Driver_Mutations

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Chemosensitivity of Patient-Derived Cancer Stem Cells Identifies Colorectal Cancer Patients with Potential Benefit from FGFR Inhibitor Therapy.

Yamamoto T et al.

Cancers, 2020

32708005 (PubMed )
Supplement: cancers-12-02010-s001.pdf

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO et al.

Gut, 2020

31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday C et al.

Nature Communications, 2020

32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4

Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Kohli M et al.

Ebiomedicine, 2020

32268276 (PubMed )
Supplement: mmc5.xlsx › cfDNA_SNV

Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Fang H et al.

Plos Genetics, 2020

32012149 (PubMed )
Supplement: pgen.1008572.s012.xlsx › Supplementary_table_3

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

Aydemirli MD et al.

Familial Cancer, 2020

Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Staninova-Stojovska M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Dos Santos W et al.

Scientific Reports, 2019

31548566 (PubMed )
Supplement: 41598_2019_49611_MOESM1_ESM.pdf

Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Lorca V et al.

Scientific Reports, 2019

Genomic Profiling of KRAS/NRAS/BRAF/PIK3CA Wild-Type Metastatic Colorectal Cancer Patients Reveals Novel Mutations in Genes Potentially Associated with Resistance to Anti-EGFR Agents.

Rachiglio AM et al.

Cancers, 2019

31226844 (PubMed )
Supplement: cancers-11-00859-s001.pdf

Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.

de Oliveira JC et al.

Cancer Medicine, 2019

Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers.

Hänninen UA et al.

British Journal of Cancer, 2019

30894686 (PubMed )
Supplement: 41416_2019_427_MOESM4_ESM.xlsx › Sheet1

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR
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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."