Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.G1232S
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SMARCA4

NM_003072.5:p.G1232S

Associated Papers

PRT3789 Is a First-in-Human SMARCA2-Selective Degrader That Induces Synthetic Lethality in SMARCA4-Mutated Cancers.

Hulse M et al.

Cancer Research, 2026

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

High-grade endometrioid carcinomas with pilomatrix-like features lacking CTNNB1 Mutations: Clinicopathologic characteristics and novel molecular events.

Qin L et al.

Human Pathology, 2025

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.

Wan H et al.

Cell Reports. Medicine, 2025

40876452 (PubMed )
Supplement: mmc2.xlsx › TableS3._Nonsilent_mutations

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM2_ESM.xlsx › stable7

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

[Research Progress on SMARCA4 Mutation Non-small Cell Lung Cancer].

Peng L et al.

Zhongguo Fei Ai Za Zhi = Chinese Journal of Lung Cancer, 2024

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.

Tesi B et al.

The Lancet Regional Health. Europe, 2024

38803632 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_4

Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case.

Marin BM et al.

Journal of Neurosurgery. Case Lessons, 2023

Genomic profiling of ovarian clear cell carcinoma in Chinese patients reveals potential prognostic biomarkers for survival.

Ye S et al.

Annals of Medicine, 2023

37272300 (PubMed )
Supplement: IANN_A_2218104_SM2772.xlsx › mutation

Molecular profiling and feasibility using a comprehensive hybrid capture panel on a consecutive series of non-small-cell lung cancer patients from a single centre.

Mosteiro M et al.

Esmo Open, 2023

38070435 (PubMed )
Supplement: mmc4.xlsx › Small_variants

Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma.

Dolgalev I et al.

Nature Communications, 2023

37938580 (PubMed )
Supplement: 41467_2023_42327_MOESM7_ESM.xlsx › snvs

The evolution of lung cancer and impact of subclonal selection in TRACERx.

Frankell AM et al.

Nature, 2023

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

Alba-Pavón P et al.

Scientific Reports, 2023

Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients.

Canto LM et al.

Cancers, 2022

Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Burkhardt B et al.

Nature Communications, 2022

35794096 (PubMed )
Supplement: 41467_2022_31355_MOESM12_ESM.xlsx › Tabelle1

Perspectives and Issues in the Assessment of SMARCA4 Deficiency in the Management of Lung Cancer Patients.

Armon S et al.

Cells, 2021

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.

Rogozin IB et al.

Frontiers in Genetics, 2021

34093666 (PubMed )
Supplement: Data_Sheet_2.xls › Sheet1

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation

Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Fernando TM et al.

Nature Communications, 2020

Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday C et al.

Nature Communications, 2020

32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Wang S et al.

Frontiers in Oncology, 2020

32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.

López C et al.

Nature Communications, 2019

30926794 (PubMed )
Supplement: 41467_2019_8578_MOESM9_ESM.xlsx › Tabelle3__3_

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Liu X et al.

Ebiomedicine, 2019

30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_detected_in_cfDNA

Modular Organization and Assembly of SWI/SNF Family Chromatin Remodeling Complexes.

Mashtalir N et al.

Cell, 2018

SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Mei Z et al.

Bmc Cancer, 2018

29703253 (PubMed )
Supplement: 12885_2018_4298_MOESM2_ESM.xlsx › Sheet1

Comprehensive Genomic Profiling of Esthesioneuroblastoma Reveals Additional Treatment Options.

Gay LM et al.

The Oncologist, 2017

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Lai Z et al.

Nucleic Acids Research, 2016

27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3

Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.

Findlay JM et al.

Nature Communications, 2016

27045317 (PubMed )
Supplement: ncomms11111-s1.pdf
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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."