Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1317Q
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APC

NM_000038.6:p.E1317Q

Associated Papers

Malignant adenomyoepithelioma with HRAS G13R mutation: A case report.

Kuwabara H et al.

Oncology Letters, 2026

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

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

A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.

Neumayer G et al.

Nature Communications, 2024

38992003 (PubMed )
Supplement: 41467_2024_49400_MOESM8_ESM.zip › Source_Data › Figure_4 › Figure_4H › Figure_4H.xlsx › CO2-48C_iPSC

Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.

Ustun Yilmaz S et al.

Genes, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

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

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

Sequencing paired tumor DNA and white blood cells improves circulating tumor DNA tracking and detects pathogenic germline variants in localized colon cancer.

Gimeno-Valiente F et al.

Esmo Open, 2023

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk.

Valle L et al.

Journal of Medical Genetics, 2023

37076288 (PubMed )
Supplement: jmg-2022-108984supp001.xlsx › Suppl._Table_1

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.

Mitiushkina NV et al.

Diagnostics (basel, Switzerland), 2023

37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf

Investigating genomic, proteomic, and post-transcriptional regulation profiles in colorectal cancer: a comparative study between primary tumors and associated metastases.

Ham-Karim H et al.

Cancer Cell International, 2023

Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.

Alba-Pavón P et al.

Scientific Reports, 2023

36805510 (PubMed )
Supplement: 41598_2023_29982_MOESM1_ESM.pdf

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Palafox M et al.

Nature Communications, 2022

36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST2_Germline_Variants

Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Scheiter A et al.

Journal of Personalized Medicine, 2022

Endometrial Carcinoma: Molecular Cytogenetics and Transcriptomic Profile.

Brunetti M et al.

Cancers, 2022

35884597 (PubMed )
Supplement: cancers-14-03536-s001.zip › Table_S2..xlsx › Sheet1

Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Mangolini A et al.

Cell Biology International, 2022

35347810 (PubMed )
Supplement: CBIN-46-1047-s001.xlsx › Mutations

Cerebellar liponeurocytoma: clinical, histopathological and molecular features of a series of three cases, including one recurrent tumor.

Broggi G et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2022

Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.

Cani AK et al.

Molecular Oncology, 2022

34866317 (PubMed )
Supplement: MOL2-16-1969-s001.pdf

Investigation of Molecular Features Involved in Clinical Responses and Survival in Advanced Endometrial Carcinoma Treated by Hormone Therapy.

Neron M et al.

Journal of Personalized Medicine, 2022

35629078 (PubMed )
Supplement: jpm-12-00655-s001.zip › Supplementary_tables__MC20220419.xlsx › Table_S4

Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.

Messaoudi SA et al.

Biomedical Reports, 2022

Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia.

Kerle IA et al.

Cancers, 2022

35326522 (PubMed )
Supplement: cancers-14-01371-s001.zip › Supplemental_Table_S1_-_Mutations_identified_by_targeted_sequencing_of_plasma_DNA.xlsx › Supplemental_Table_1

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_mut

Hereditary variants of unknown significance in African American women with breast cancer.

McDonald JT et al.

Plos One, 2022

36315513 (PubMed )
Supplement: pone.0273835.s001.xlsx › ConsensusScores

Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.

Thulin A et al.

Scientific Reports, 2021

34876602 (PubMed )
Supplement: 41598_2021_2903_MOESM1_ESM.xlsx › Blad1

Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.

Leung SOA et al.

The Oncologist, 2021

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

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

Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study.

Kassem N et al.

Journal of the Egyptian National Cancer Institute, 2021

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Molecular Profiling of Merkel Cell Polyomavirus-Associated Merkel Cell Carcinoma and Cutaneous Melanoma.

Mokánszki A et al.

Diagnostics (basel, Switzerland), 2021

ctDNA in Neuroendocrine Carcinoma of Gastroenteropancreatic Origin or of Unknown Primary: The CIRCAN-NEC Pilot Study.

Gerard L et al.

Neuroendocrinology, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Aitchison A et al.

Cancers, 2020

Oncogenic driver mutations predict outcome in a cohort of head and neck squamous cell carcinoma (HNSCC) patients within a clinical trial.

Fernández-Mateos J et al.

Scientific Reports, 2020

33024167 (PubMed )
Supplement: 41598_2020_72927_MOESM2_ESM.xlsx › Sheet1

Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Mateo L et al.

Genome Medicine, 2020

32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Biomarkers
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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."