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Gene

FANCC

FANCC is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (2), Actionable biomarkers (2), Trial mentions (28), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000158169 UniProt Q00597 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 2 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 28 Target-disease associations Target-disease associations 343 Vendor sourcing Vendor sourcing 112 Trial-cited literature Trial-cited literature 90 Protein variant mentions Protein variant mentions 83 Literature-extracted relations Literature-extracted relations 6 Assay-provider ledger Assay-provider ledger 2 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 28 Target-disease associations Target-disease associations 343 Vendor sourcing Vendor sourcing 112 Trial-cited literature Trial-cited literature 90 Protein variant mentions Protein variant mentions 83 Literature-extracted relations Literature-extracted relations 6

Rows recorded per section (log scale)

1 more section with rows · 3 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

Get the FANCC report as a PDF

The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention FANCC. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 2 at the structurally incomplete recent edge.

The yearly numbers
FANCC per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 0 of 8,738 0.00% not measured
2025 0 of 8,875 0.00% not measured
2024 1 of 8,597 0.01% not measured
2023 2 of 8,275 0.02% 8 of 11,460 0.07%
2022 4 of 8,285 0.05% 11 of 13,598 0.08%
2021 4 of 8,692 0.05% 12 of 15,045 0.08%
2020 4 of 7,640 0.05% 11 of 14,459 0.08%
2019 2 of 7,300 0.03% 4 of 12,159 0.03%
2018 3 of 6,927 0.04% 8 of 11,854 0.07%
2017 2 of 6,558 0.03% 6 of 11,595 0.05%

Assay-provider ledger (2)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Memorial Sloan Kettering Cancer Center Not a company Clinical validationAnalytical validation 1 February 01, 2019
The Cancer Genome Atlas (TCGA) Not a company Clinical validationAnalytical validation 1 February 01, 2019

Actionable biomarkers (2)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
FANCC oncogenic mutation CISPLATIN response-associated No disease recorded Cancer Genome Interpreter
FANCC deletion CISPLATIN response-associated No disease recorded Cancer Genome Interpreter

Trial mentions (28)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT04550494 Trial eligibility (AACT)
NCT00352976 Trial eligibility (AACT)
NCT05687110 Trial eligibility (AACT)
NCT05967286 Trial eligibility (AACT)
NCT02401347 Trial eligibility (AACT)

Target-disease associations (343)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
46 XX gonadal dysgenesis endocrine system disease Mouse knockout (IMPC)
46,XX gonadal dysgenesis endocrine system disease Mouse knockout (IMPC)
46,XX ovotesticular disorder of sex development endocrine system disease Mouse knockout (IMPC)
46,XX testicular disorder of sex development endocrine system disease Mouse knockout (IMPC)
46,XY complete gonadal dysgenesis cardiovascular disease Mouse knockout (IMPC)

Vendor sourcing (112)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant is not observed in the gnomAD v4.1.0 dataset. Predicted Consequence/Location: Missense variant. The majority of the known disease-causing variant... View ClinVar record SCV007607340.1
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The FANCC c.1151A>G; p.His384Arg variant (rs577302082), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID:... View ClinVar record SCV007331947.1
AbbVie Inc. Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : * Patients must have a histologically documented (either primary or metastatic site) diagnosis of advanced solid tumor cancer (stage IV or unresectable) o... View trial NCT03061188
AbbVie Inc. Trial collaborator Mentioned in trial textTrial free-text mention FANCC View trial NCT03061188
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein functio... View ClinVar record SCV000673285.5

Trial-cited literature (90)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Phase II Trial of Risk-Enabled Therapy After Neoadjuvant Chemotherapy for Muscle-Invasive Bladder Cancer (RETAIN 1). Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2025 55
Phase 1 study of quercetin, a natural antioxidant for children and young adults with Fanconi anemia. Blood advances 2025 12
Gemcitabine and cisplatin plus nivolumab as organ-sparing treatment for muscle-invasive bladder cancer: a phase 2 trial. Nature medicine 2023 131
The role of iron in the pathogenesis of endometriosis: a systematic review. Human reproduction open 2023 69
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica 2023 51

Protein variant mentions (83)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A132G 1 2015 PMID 25741868
p.A284V 1 2015 PMID 25741868
p.A301T 1 2015 PMID 25741868
p.A325T 1 2015 PMID 25741868
p.A325V 2 2015 to 2016 PMID 26467025, PMID 25741868

Literature-extracted relations (6)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Neoplasms Disease associate Precision medicine phase II study evaluating the efficacy of a double immunotherapy by durvalumab and tremelimumab combined with olaparib in patients with solid cancers and carriers of homologous recombination repair genes mutation in response or stable after olaparib treatment. 2020
Drug-Related Side Effects and Adverse Reactions Disease associate Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients. 2018
Non-Muscle Invasive Bladder Neoplasms Disease associate Defects in DNA Repair Genes Predict Response to Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer. 2015
Anemia, Hemolytic Disease associate The Fanconi anaemia gene FANCC promotes homologous recombination and error-prone DNA repair. 2004
Anemia, Hemolytic Disease associate A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 1993

Organizations publishing (139)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Government of the United States of America Government 7 2016 to 2023
Memorial Sloan Kettering Cancer Center Hospital 7 2016 to 2023
Dana-Farber Cancer Institute Other 5 2015 to 2022
Mass General Brigham Hospital 5 2015 to 2022
Harvard Medical School Academic 4 2015 to 2023

Where FANCC appears

  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • genetic, familial or congenital disease
  • infectious disease
  • injury, poisoning or other complication
  • measurement
  • nervous system disease
  • phenotype
  • reproductive system or breast disease
  • urinary system disease

324 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions, fda biomarker qualification projects, and human sample screening reference.

Browse all biomarker evidence pages