Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1317*
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APC

NM_000038.6:p.E1317*

Associated Papers

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms.

Jacobson AL et al.

Journal of Medical Genetics, 2025

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

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 › ST11

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Whole_exome_frozen

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

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

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Somatic mutation profiling and HER2 status in KRAS-positive Chinese colorectal cancer patients.

Dong Z et al.

Scientific Reports, 2019

31729406 (PubMed )
Supplement: 41598_2019_53039_MOESM1_ESM.pdf

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Rectum

Subclonal diversity arises early even in small colorectal tumours and contributes to differential growth fates.

Sievers CK et al.

Gut, 2017

27609830 (PubMed )
Supplement: gutjnl-2016-312232supp002.pdf

APC and the three-hit hypothesis.

Segditsas S et al.

Oncogene, 2009

Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.

Halford SE et al.

The American Journal of Pathology, 2003

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

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Al-Tassan N et al.

Nature Genetics, 2002

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Lamlum H et al.

Nature Medicine, 1999

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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."