Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Y935insFs
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APC

NM_000038.6:p.Y935insFs

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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

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

Disease Modeling on Tumor Organoids Implicates AURKA as a Therapeutic Target in Liver Metastatic Colorectal Cancer.

Boos SL et al.

Cellular and Molecular Gastroenterology and Hepatology, 2022

34700030 (PubMed )
Supplement: mmc1.xlsx › OCA_panel_on_PDTOs_and_CT-PDTOs

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

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

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

Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China.

Li N et al.

Journal of Gastroenterology and Hepatology, 2019

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

Khan N et al.

Scientific Reports, 2017

Molecular Characterization of Somatic Alterations in Dukes' B and C Colorectal Cancers by Targeted Sequencing.

Abdul SN et al.

Frontiers in Pharmacology, 2017

Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.

Kohda M et al.

Familial Cancer, 2016

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Chubb D et al.

Nature Communications, 2016

27329137 (PubMed )
Supplement: ncomms11883-s1.pdf

A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer.

Hasanpour M et al.

Cell Journal, 2014

Prognostic significance of interaction between somatic APC mutations and 5-fluorouracil adjuvant chemotherapy in Taiwanese colorectal cancer subjects.

Chen SP et al.

American Journal of Clinical Oncology, 2009

Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma.

Uchino S et al.

World Journal of Surgery, 2006

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

Cowie S et al.

Human Mutation, 2004

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

De Rosa M et al.

Human Mutation, 2003

Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online.

Scarano MI et al.

Human Mutation, 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."