Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1059*
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APC

NM_000038.6:p.E1059*

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

An update of the variant spectrum of the APC gene in Iranian familial adenomatous polyposis patients.

Mirabdolhosseini SM et al.

Nucleosides, Nucleotides & Nucleic Acids, 2024

APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.

Takao M et al.

International Journal of Clinical Oncology, 2021

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM4_ESM.xlsx › Suppl._Table_3

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

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2015

Detection of APC mosaicism by next-generation sequencing in an FAP patient.

Yamaguchi K et al.

Journal of Human Genetics, 2015

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

MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas.

Kim JC et al.

Virchows Archiv : an International Journal of Pathology, 2007

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

Jones S et al.

Human Molecular Genetics, 2002

Novel mutations in the APC gene and clinical features in Swedish patients with polyposis coli.

Nordling M et al.

Anticancer Research, 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."