Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.W1049*
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APC

NM_000038.6:p.W1049*

Associated Papers

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

Yang M et al.

Npj Precision Oncology, 2025

40089605 (PubMed )
Supplement: 41698_2025_864_MOESM1_ESM.pdf

Multiplexed in vivo base editing identifies functional gene-variant-context interactions.

Acosta J et al.

Biorxiv : the Preprint Server for Biology, 2025

40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A

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

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Alba-Pavón P et al.

Translational Pediatrics, 2023

Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.

Fountzilas E et al.

International Journal of Molecular Sciences, 2023

37511593 (PubMed )
Supplement: ijms-24-11834-s001.zip › Supplemental_Table_S3.xlsx › List_of_variants

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

A comprehensive analysis of the microbiota composition and host driver gene mutations in colorectal cancer.

Yuan D et al.

Investigational New Drugs, 2022

The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis.

Nguyen BH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

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 › Biomarkers

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

Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.

Surun A et al.

Neuro-oncology, 2020

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

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

[Pilot clinical and genetic study of Russian patients with Peutz-Jeghers syndrome].

Shelygin YA et al.

Voprosy Onkologii, 0

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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."