Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q978*
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APC

NM_000038.6:p.Q978*

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

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

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

Molecularly annotation of mouse avatar models derived from patients with colorectal cancer liver metastasis.

Wang J et al.

Theranostics, 2019

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC

Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.

Lanman RB et al.

Plos One, 2015

26474073 (PubMed )
Supplement: pone.0140712.s004.xlsx › GH_concordance_five_centers_edi

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

Dynamics of cancer cell subpopulations in primary and metastatic colorectal tumors.

Goranova TE et al.

Clinical & Experimental Metastasis, 2011

21380628 (PubMed )
Supplement: 10585_2011_9381_MOESM2_ESM.xls › Sheet1

APC gene mutations causing familial adenomatous polyposis in Polish patients.

Plawski A et al.

Journal of Applied Genetics, 2008

Recurrent APC gene mutations in Polish FAP families.

Pławski A et al.

Hereditary Cancer in Clinical Practice, 2007

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Mutations at the APC exon 15 in the colorectal neoplastic tissues of serial array.

Kim JC et al.

International Journal of Colorectal Disease, 2001

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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."