Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.M438Splc
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APC

NM_000038.6:p.M438Splc

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

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 › d_Exp-data

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Spier I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.

Kyrochristos ID et al.

Frontiers in Oncology, 2022

35402285 (PubMed )
Supplement: Table_1.xlsx › Patient_plots

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.

Lee SH et al.

Cancers, 2020

32023847 (PubMed )
Supplement: cancers-12-00325-s001.zip › cancers-689749-supplement_final › Table_S2.xlsx › TableS3

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Pang M et al.

Molecular Medicine Reports, 2018

Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Kong SL et al.

Oncotarget, 2017

28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S5

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

Zhang S et al.

Gene, 2016

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

Kerr SE et al.

The Journal of Molecular Diagnostics : Jmd, 2013

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA et al.

Journal of Cancer Research and Clinical Oncology, 2009

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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."