Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1544*
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APC

NM_000038.6:p.E1544*

Associated Papers

Mutational Analysis of Early, Low-Grade Bowel Polyps Defines a Subgroup with Concurrent, High-Risk Oncogenic Drivers Independent of Polyp Size.

Li J et al.

Cancer Research Communications, 2025

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.

Meuser E et al.

Molecular Cancer Research : Mcr, 2024

38546397 (PubMed )
Supplement: mcr-23-0810_supplementary_table_s1_suppst1.xlsx › Sheet1

Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas.

Tóth M et al.

Virchows Archiv : an International Journal of Pathology, 2024

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

Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.

Terlouw D et al.

Genes, Chromosomes & Cancer, 2024

Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.

Mafficini A et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Robinson PS et al.

Nature Genetics, 2021

34594041 (PubMed )
Supplement: 41588_2021_930_MOESM3_ESM.xlsx › Supplementary_Table_3

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM5_ESM.xlsx › Suppl._Table_4

Clinicopathological and molecular characteristics of endometrial neuroendocrine carcinomas reveal preexisting endometrial carcinoma origin.

Ono K et al.

Pathology International, 2021

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

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.

Kim JE et al.

Experimental & Molecular Medicine, 2021

33753878 (PubMed )
Supplement: 12276_2021_583_MOESM1_ESM.zip › 210226_BJX6JPRP_EMM2020836R_Supplelemtary_table_merged__1_.xls › Supplementary_Table_3

Lower Rate of CTNNB1 Mutations and Higher Rate of APC Mutations in Desmoid Fibromatosis of the Breast: A Series of 134 Tumors.

Norkowski E et al.

The American Journal of Surgical Pathology, 2020

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

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Chang YS et al.

Cancer Medicine, 2019

Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.

Cao W et al.

Molecular Cancer Therapeutics, 2019

31015309 (PubMed )
Supplement: 15357163mct181247-sup-211489_2_supp_5355372_pn7d76.pdf

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.

Thomas LE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Li SD et al.

Genome Medicine, 2017

29082853 (PubMed )
Supplement: 13073_2017_478_MOESM1_ESM.xlsx › Table_S2

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A et al.

Ebiomedicine, 2017

28551381 (PubMed )
Supplement: mmc6.pdf

Data resources for the identification and interpretation of actionable mutations by clinicians.

Prawira A et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.

Stockley TL et al.

Genome Medicine, 2016

High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Tan IB et al.

Genome Biology, 2015

25808843 (PubMed )
Supplement: 13059_2015_589_MOESM4_ESM.pdf

Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

Ong M et al.

British Journal of Cancer, 2014

Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Han SW et al.

Plos One, 2013

23700467 (PubMed )
Supplement: pone.0064271.s004.xlsx › Sheet1

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

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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."