Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.K993*
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APC

NM_000038.6:p.K993*

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

Molecular genetic analysis of colorectal carcinoma with an aggressive extraintestinal immunohistochemical phenotype.

Hrudka J et al.

Scientific Reports, 2024

39333321 (PubMed )
Supplement: 41598_2024_72687_MOESM2_ESM.xlsx › 19

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes

The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis.

Nguyen BH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

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

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 › Colon

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

BCL9L Dysfunction Impairs Caspase-2 Expression Permitting Aneuploidy Tolerance in Colorectal Cancer.

López-García C et al.

Cancer Cell, 2017

28073006 (PubMed )
Supplement: mmc1.pdf

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

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

APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.

García-Lozano JR et al.

Genetic Testing, 2005

Alternative genetic pathways in colorectal carcinogenesis.

Olschwang S et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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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."