Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1577*
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APC

NM_000038.6:p.E1577*

Associated Papers

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp

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 › Fig3B_EC_data

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

Terlouw D et al.

Genes, Chromosomes & Cancer, 2024

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

35098669 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Molecular and Radiological Features of Microsatellite Stable Colorectal Cancer Cases With Dramatic Responses to Immunotherapy.

Keenan BP et al.

Anticancer Research, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Integrated genetic and epigenetic analysis of cancer-related genes in non-ampullary duodenal adenomas and intramucosal adenocarcinomas.

Ota R et al.

The Journal of Pathology, 2020

32770675 (PubMed )
Supplement: PATH-252-330-s002.xlsx › Table_S6

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp005.xlsx › APC_somatic_mutation_profile

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

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

Wang J et al.

Theranostics, 2019

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

APC:T1556fs and STK11 mutations in duodenal adenomas and adenocarcinomas.

Kojima Y et al.

Surgery Today, 2018

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

Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

Hirshfield KM et al.

The Oncologist, 2016

27566247 (PubMed )
Supplement: supp_the2016-0049_Supplemental_Tables.pdf

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV et al.

Genome Medicine, 2016

27245685 (PubMed )
Supplement: 13073_2016_313_MOESM1_ESM.xlsx › S5

Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines.

Hollestelle A et al.

Breast Cancer Research and Treatment, 2010

Biallelic APC inactivation was responsible for functional adrenocortical adenoma in familial adenomatous polyposis with novel germline mutation of the APC gene: report of a case.

Hosogi H et al.

Japanese Journal of Clinical Oncology, 2009

Gonadal mosaicism and familial adenomatous polyposis.

Schwab AL et al.

Familial Cancer, 2008

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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."