Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1256*
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APC

NM_000038.6:p.Q1256*

Associated Papers

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

To β or Not to β: Lack of Correlation Between APC Mutation and β-Catenin Nuclear Localization in Colorectal Cancer.

Bala P et al.

Journal of Gastrointestinal Cancer, 2023

A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy translational biomarker phase II pilot study.

Unseld M et al.

International Journal of Cancer, 2021

32949150 (PubMed )
Supplement: IJC-148-1452-s003.xlsx › Table_S3

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

Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.

Lanman RB et al.

Plos One, 2015

26474073 (PubMed )
Supplement: pone.0140712.s004.xlsx › GH_concordance_five_centers_edi

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

Mutation spectrum of the APC gene in 83 Korean FAP families.

Kim DW et al.

Human Mutation, 2005

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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."