Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.S1088F
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FANCA

NM_000135.4:p.S1088F

Associated Papers

Evolution of AR and non-AR alterations in circulating tumor DNA of metastatic prostate cancer patients treated in the phase 3 Alliance A031201 trial.

Valentín López JC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.

Ku WC et al.

Clinical Proteomics, 2025

39844043 (PubMed )
Supplement: 12014_2025_9526_MOESM2_ESM.xlsx › ___1

AR alterations inform circulating tumor DNA detection in metastatic castration resistant prostate cancer patients.

Knutson TP et al.

Nature Communications, 2024

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Establishment and characterization of a novel hilar cholangiocarcinoma cell line, CBC3T-1.

Bai M et al.

Human Cell, 2024

Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.

Behrens D et al.

Cancers, 2023

38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S2

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Co-evolution of AR gene copy number and structural complexity in endocrine therapy resistant prostate cancer.

Zivanovic A et al.

Nar Cancer, 2023

37636316 (PubMed )
Supplement: zcad045_supplemental_files.zip › SupplementaryDataS12.xlsx › Sheet_1

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.

Wang X et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Correction: Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.

Tang D et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.

Tang D et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Clinical Benefit With PARP Inhibitor for Pathogenic Germline FANCA-Mutated Relapsed Epithelial Ovarian Cancer: A Case Report.

Qian B et al.

Frontiers in Oncology, 2022

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Ng CC et al.

Frontiers in Molecular Biosciences, 2022

36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S9

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

George M et al.

Human Mutation, 2021

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Thompson AS et al.

Molecular Genetics & Genomic Medicine, 2021

33960719 (PubMed )
Supplement: MGG3-9-e1693-s005.docx

Early onset of head and neck squamous-cell carcinoma and fatal toxicity with concurrent chemoradiotherapy in a patient compound heterozygote for FANCA gene.

Martin M et al.

Oral Oncology, 2021

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s006.xlsx › Supp_Table_S6_A__NGS

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Variant profiles of genes mapping to chromosome 16q loss in Wilms tumors reveals link to cilia-related genes and pathways.

Kitamura E et al.

Genes & Cancer, 2020

33488951 (PubMed )
Supplement: ganc-11-137-s002.xlsx › Supplementary_Table_3

Durable benefit from immunotherapy and accompanied lupus erythematosus in pancreatic adenocarcinoma with DNA repair deficiency.

Pang X et al.

Journal for Immunotherapy of Cancer, 2020

32636238 (PubMed )
Supplement: jitc-2019-000463supp001.pdf

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Bogliolo M et al.

Journal of Medical Genetics, 2020

Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17-19th, 2019.

Unknown Author

Familial Cancer, 2020

Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.

Luo Y et al.

Biomed Research International, 2020

32083130 (PubMed )
Supplement: 6096814.f1.zip › 6096814.f1 › mat.6096814.v1.xlsx › Germline_mutation

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oliveira DM et al.

Oncotarget, 2018

29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4

A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.

Wilkes DC et al.

Cold Spring Harbor Molecular Case Studies, 2017

[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

Macháčková E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Thongnak C et al.

Disease Markers, 2016

Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.

Nicolas E et al.

Oncotarget, 2015

Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.

Beltran H et al.

Jama Oncology, 2015

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

De Rocco D et al.

Haematologica, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.

Litim N et al.

Molecular Oncology, 2013

[Surgical prevention of breast carcinoma in patients with hereditary risk].

Dražan L et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Ley TJ et al.

Nature, 2008

18987736 (PubMed )
Supplement: NIHMS71093-supplement-5.xls › untitled1

Genetics of the FANCA gene in familial pancreatic cancer.

Rogers CD et al.

Journal of Medical Genetics, 2004

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

Kupfer G et al.

Experimental Hematology, 1999

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

Wijker M et al.

European Journal of Human Genetics : Ejhg, 1999

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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."