Gene
PTCH1
PTCH1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (5), Actionable biomarkers (4), Trial mentions (23), and 6 more evidence types, each linked to its source.
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Rows recorded per section (log scale)
1 more section with rows · 3 sections measured, none recorded
Cancer actionable (CGI)
Evidence over time
Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention PTCH1. 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. Not plotted: 1 with no date at all.
Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 1 at the structurally incomplete recent edge.
The yearly numbers
| Year | Trial mentions | Share of that year | Publication mentions | Share of that year |
|---|---|---|---|---|
| 2026 | 1 of 8,738 | 0.01% | not measured | |
| 2025 | 0 of 8,875 | 0.00% | not measured | |
| 2024 | 1 of 8,597 | 0.01% | not measured | |
| 2023 | 0 of 8,275 | 0.00% | 9 of 11,460 | 0.08% |
| 2022 | 3 of 8,285 | 0.04% | 13 of 13,598 | 0.10% |
| 2021 | 0 of 8,692 | 0.00% | 13 of 15,045 | 0.09% |
| 2020 | 0 of 7,640 | 0.00% | 6 of 14,459 | 0.04% |
| 2019 | 1 of 7,300 | 0.01% | 9 of 12,159 | 0.07% |
| 2018 | 3 of 6,927 | 0.04% | 9 of 11,854 | 0.08% |
| 2017 | 0 of 6,558 | 0.00% | 3 of 11,595 | 0.03% |
Showing 10 of 37 years.
Assay-provider ledger (5)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| Agilent Technologies | Reagent supplier | Clinical validation | 1 | June 01, 2018 |
| Illumina | Unclassified | Clinical validation | 1 | June 01, 2018 |
| Promega | Reagent supplier | Clinical validation | 1 | June 01, 2018 |
| THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) | Reagent supplier | Clinical validation | 1 | June 01, 2018 |
| Foundation Medicine | Diagnostic provider | Clinical validationAnalytical validation | 1 | November 01, 2014 |
Actionable biomarkers (4)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| PTCH1 oncogenic mutation | Vismodegib | response-associated | basal cell carcinoma | Cancer Genome Interpreter |
| PTCH1 oncogenic mutation | Smo Inhibitors | response-associated | medulloblastoma | Cancer Genome Interpreter |
| PTCH1 oncogenic mutation | Vismodegib | response-associated | medulloblastoma | Cancer Genome Interpreter |
| PTCH1 oncogenic mutation | Foretinib | response-associated | medulloblastoma | Cancer Genome Interpreter |
Trial mentions (23)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT03467789 | Trial eligibility (AACT) |
| NCT00433485 | Trial eligibility (AACT) |
| NCT02157623 | Trial eligibility (AACT) |
| NCT04402073 | Trial eligibility (AACT) |
| NCT03434262 | Trial eligibility (AACT) |
Showing 5 of 23 trial mentions.
Target-disease associations (895)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| 25-hydroxyvitamin D3 measurement | measurement | GWAS credible sets |
| 4-5 toe syndactyly | genetic, familial or congenital disease | Variant curation (ClinVar / EVA) |
| 4-hydroxyglutamate measurement | measurement | GWAS credible sets |
| 49,XYYYY syndrome | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| APC-related attenuated familial adenomatous polyposis | cancer or benign tumor | Mouse knockout (IMPC) |
Showing 5 of 895 associations.
Vendor sourcing (94)
Shown in this order: alphabetical by organization.
| Organization | Role | Tier | Evidence | Citation |
|---|---|---|---|---|
| 3billion, Inc. (South Korea) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple path... | View ClinVar record SCV002058555.1 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The PTCH1 c.395-1G>A variant (rs368869806, ClinVar Variation ID: 162510) is reported in the literature in single individuals affected with esthesioneuroblast... | View ClinVar record SCV005876031.1 |
| Alliance for Clinical Trials in Oncology | Trial sponsor | Mentioned in trial textTrial free-text mention | PTCH1 | View trial NCT02523014 |
| Ambry Genetics (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein ... | View ClinVar record SCV000580994.6 |
| Baylor College of Medicine | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | PVS1, BS3, PP3 | View ClinVar record SCV005871064.1 |
Showing 5 of 94 sourcing records.
Trial-cited literature (143)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| Phase II Study of Vismodegib in Patients With <i>SMO-</i> or <i>PTCH1</i>-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T. | JCO precision oncology | 2025 | 0 |
| Molecular diagnostics in the evaluation of thyroid nodules: Current use and prospective opportunities. | Frontiers in endocrinology | 2023 | 80 |
| ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling - a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial. | BMC cancer | 2023 | 28 |
| A Phase II Clinical Trial of Pembrolizumab Efficacy and Safety in Advanced Renal Medullary Carcinoma. | Cancers | 2023 | 25 |
| Absence of Lugol staining indicates initiation of esophageal squamous cell carcinoma: A combined genomic and epidemiologic study. | Cell reports. Medicine | 2023 | 12 |
Showing 5 of 143 papers.
Protein variant mentions (85)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A1141V | 1 | 2015 | PMID 25637381 |
| p.A1247T | 1 | 2016 | PMID 26467025 |
| p.A1322T | 1 | 2015 | PMID 25741868 |
| p.A398V | 1 | 2015 | PMID 25741868 |
| p.A521T | 1 | 2015 | PMID 25741868 |
Showing 5 of 85 variants.
Literature-extracted relations (19)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| Dysgeusia | Disease | associate |
Phase II Study of Vismodegib in Patients With <i>SMO-</i> or <i>PTCH1</i>-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T. | 2025 |
| Fatigue | Disease | associate |
Phase II Study of Vismodegib in Patients With <i>SMO-</i> or <i>PTCH1</i>-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T. | 2025 |
| Neoplasms | Disease | associate |
Phase II Study of Vismodegib in Patients With <i>SMO-</i> or <i>PTCH1</i>-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T. | 2025 |
| Sarcoma | Disease | associate |
Phase II Study of Vismodegib in Patients With <i>SMO-</i> or <i>PTCH1</i>-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T. | 2025 |
| Weight Loss | Disease | associate |
Phase II Study of Vismodegib in Patients With <i>SMO-</i> or <i>PTCH1</i>-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T. | 2025 |
Showing 5 of 19 relation assertions.
Organizations publishing (233)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Government of the United States of America | Government | 11 | 2010 to 2025 |
| Mayo Clinic | Hospital | 9 | 2010 to 2022 |
| The University of Texas System | Academic | 9 | 2012 to 2025 |
| University of Michigan | Academic | 9 | 2011 to 2022 |
| Novant Health | Hospital | 8 | 2011 to 2021 |
Showing 5 of 233 organizations.
Where PTCH1 appears
- animal disease
- biological_process
- cancer or benign tumor
- cardiovascular disease
- disorder of visual system
- endocrine system disease
- gastrointestinal disease
- genetic, familial or congenital disease
- immune system disease
- infectious disease
- integumentary system disease
- measurement
- medical procedure
- musculoskeletal or connective tissue disease
- nervous system disease
- nutritional or metabolic disease
- phenotype
- pregnancy or perinatal disease
- reproductive system or breast disease
- respiratory or thoracic disease
- urinary system disease
805 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.