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Updated moalmanac db to 2024-12-05 release (#31)
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@brendanreardon
brendanreardon authored Dec 10, 2024
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260 changes: 254 additions & 6 deletions datasources/moalmanac/molecular-oncology-almanac.json
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{
"release": "2024-10-03",
"release": "2024-12-05",
"version": "1.3.0",
"genes": [
"ABL1",
Expand Down Expand Up @@ -75,6 +75,7 @@
"JAK3",
"KEAP1",
"KIT",
"KMT2A",
"KRAS",
"LIMK2",
"MAP2K1",
Expand Down Expand Up @@ -102,6 +103,7 @@
"NFE2L2",
"NPM1",
"NRAS",
"NRG1",
"NSD2",
"NTRK1",
"NTRK2",
Expand Down Expand Up @@ -375,15 +377,15 @@
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administraton (FDA) granted accelerated approval based on major molecular resposne to Scemblix (asciminib) for patients with Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated with two or more tyrosine kinase inhibitors (TKIs).",
"description": "The U.S. Food and Drug Administraton (FDA) granted approval to asciminib for the treatment of adult patients with Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP) that have been previously treated.",
"source_type": "FDA",
"citation": "Novartis Pharmaceuticals Corporation. Scemblix (asciminib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/215358s000Orig1lbl.pdf. Revised October 2021. Accessed November 3, 2021.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/215358s000Orig1lbl.pdf",
"citation": "Novartis Pharmaceuticals Corporation. Scemblix (asciminib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf. Revised October 2024. Accessed November 6, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2021-10-01",
"last_updated": "2021-11-03",
"publication_date": "2024-10-29",
"last_updated": "2024-11-06",
"_deprecated": false,
"feature_display": "BCR--ABL1 Fusion"
},
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"last_updated": "2024-10-02",
"_deprecated": false,
"feature_display": "EGFR p.T790M (Missense)"
},
{
"feature_type": "Rearrangement",
"gene1": "BCR",
"gene2": "ABL1",
"rearrangement_type": "Fusion",
"locus": "",
"disease": "Chronic Myeloid Leukemia",
"context": "",
"oncotree_term": "Chronic Myelogenous Leukemia",
"oncotree_code": "CML",
"therapy_name": "Asciminib",
"therapy_strategy": "BCR-ABL inhibition",
"therapy_type": "Targeted therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted accelerated approval to asciminib for the treatment of adult patients with newly diagnosed Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP).",
"source_type": "FDA",
"citation": "Novartis Pharmaceuticals Corporation. Scemblix (asciminib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf. Revised October 2024. Accessed November 6, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-10-29",
"last_updated": "2024-11-06",
"_deprecated": false,
"feature_display": "BCR--ABL1 Fusion"
},
{
"feature_type": "Rearrangement",
"gene1": "BCR",
"gene2": "ABL1",
"rearrangement_type": "Fusion",
"locus": "",
"disease": "Chronic Myeloid Leukemia",
"context": "",
"oncotree_term": "Chronic Myelogenous Leukemia",
"oncotree_code": "CML",
"therapy_name": "Asciminib",
"therapy_strategy": "BCR-ABL inhibition",
"therapy_type": "Targeted therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted approval to asciminib for the treatment of adult patients with Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) and ABL1 p.T315I.",
"source_type": "FDA",
"citation": "Novartis Pharmaceuticals Corporation. Scemblix (asciminib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf. Revised October 2024. Accessed November 6, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-10-29",
"last_updated": "2024-11-06",
"_deprecated": false,
"feature_display": "BCR--ABL1 Fusion"
},
{
"feature_type": "Somatic Variant",
"gene": "ABL1",
"chromosome": "9",
"start_position": 133748283,
"end_position": 133748283,
"reference_allele": "C",
"alternate_allele": "T",
"cdna_change": "c.944C>T",
"protein_change": "p.T315I",
"variant_annotation": "Missense",
"exon": 5,
"rsid": "rs121913459",
"disease": "Chronic Myeloid Leukemia",
"context": "",
"oncotree_term": "Chronic Myelogenous Leukemia",
"oncotree_code": "CML",
"therapy_name": "Asciminib",
"therapy_strategy": "BCR-ABL inhibition",
"therapy_type": "Targeted therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted approval to asciminib for the treatment of adult patients with Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) and ABL1 p.T315I.",
"source_type": "FDA",
"citation": "Novartis Pharmaceuticals Corporation. Scemblix (asciminib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf. Revised October 2024. Accessed November 6, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/215358Orig1s008lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-10-29",
"last_updated": "2024-11-06",
"_deprecated": false,
"feature_display": "ABL1 p.T315I (Missense)"
},
{
"feature_type": "Somatic Variant",
"gene": "PIK3CA",
"chromosome": "",
"start_position": "",
"end_position": "",
"reference_allele": "",
"alternate_allele": "",
"cdna_change": "",
"protein_change": "",
"variant_annotation": "",
"exon": "",
"rsid": "",
"disease": "Breast Cancer",
"context": "",
"oncotree_term": "Invasive Breast Carcinoma",
"oncotree_code": "BRCA",
"therapy_name": "Inavolisib + Fulvestrant + Palbociclib",
"therapy_strategy": "PI3K/AKT/mTOR inhibition + ER signaling inhibition + CDK4/6 inhibition",
"therapy_type": "Combination therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted approval to inavolisib in combination with fulvestrant and palbociclib for the treatment of adult patients with endocrine-resistant, PIK3CA-mutated, hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, locally advanced or metastatic breast cancer, as detected by an FDA-approved test, following recurrence on or after completing adjuvant endocrine therapy. Inavolisib's drug label further states that patients should be selected based on the presence of one or more PIK3CA mutations in plasma specimen. This approval is based on INAVO120 (NCT04191499), a phase 3 double-blind, randomized trial, where PIK3CA mutation status was prospectively determined in a central laboratory using the FoundationOne Liquid CDx assay on plasma-derived circulating tumor DNA (ctDNA) or in local laboratories using various validated polymerase chain reaction (PCR) or next-generation sequencing (NGS) assays on tumor tissue or plasma.",
"source_type": "FDA",
"citation": "Genentech, Inc. Itovebi (inavolisib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/219249s000lbl.pdf. Revised October 2024. Accessed November 6, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/219249s000lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-10-10",
"last_updated": "2024-11-07",
"_deprecated": false,
"feature_display": "PIK3CA"
},
{
"feature_type": "Rearrangement",
"gene1": "KMT2A",
"gene2": "",
"rearrangement_type": "Translocation",
"locus": "",
"disease": "",
"context": "",
"oncotree_term": "Acute Myeloid Leukemia",
"oncotree_code": "AML",
"therapy_name": "Revumenib",
"therapy_strategy": "Menin inhibition",
"therapy_type": "Targeted therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted approval to revumenib for the treatment of adult and pediatric patients 1 year and older with relapsed or refractory acute leukemia with a lysine methyltransferase 2A gene (KMT2A) translocation.",
"source_type": "FDA",
"citation": "Syndax Pharmaceuticals, Inc. Revuforj (revumenib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/218944s000lbl.pdf. Revised November 2024. Accessed December 5, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/218944s000lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-11-15",
"last_updated": "2024-12-05",
"_deprecated": false,
"feature_display": "KMT2A Translocation"
},
{
"feature_type": "Rearrangement",
"gene1": "KMT2A",
"gene2": "",
"rearrangement_type": "Translocation",
"locus": "",
"disease": "",
"context": "",
"oncotree_term": "Acute Lymphoid Leukemia",
"oncotree_code": "ALL",
"therapy_name": "Revumenib",
"therapy_strategy": "Menin inhibition",
"therapy_type": "Targeted therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted approval to revumenib for the treatment of adult and pediatric patients 1 year and older with relapsed or refractory acute leukemia with a lysine methyltransferase 2A gene (KMT2A) translocation.",
"source_type": "FDA",
"citation": "Syndax Pharmaceuticals, Inc. Revuforj (revumenib) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/218944s000lbl.pdf. Revised November 2024. Accessed December 5, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/218944s000lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-11-15",
"last_updated": "2024-12-05",
"_deprecated": false,
"feature_display": "KMT2A Translocation"
},
{
"feature_type": "Rearrangement",
"gene1": "NRG1",
"gene2": "",
"rearrangement_type": "Fusion",
"locus": "",
"disease": "",
"context": "",
"oncotree_term": "Non-Small Cell Lung Cancer",
"oncotree_code": "NSCLC",
"therapy_name": "Zenocutuzumab-zbco",
"therapy_strategy": "NRG1 inhibition",
"therapy_type": "Targeted therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted accelerated approval to zenocutuzumab-zbco for the treatment of adult patients with advanced, unresectable or metastatic non-small cell lung cancer (NSCLC) harboring a neuregulin 1 (NRG1) gene fusion with disease progression on or after prior systemic therapy.",
"source_type": "FDA",
"citation": "Merus N.V. Bizengri (zenocutuzumab-zbco) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/761352s001lbl.pdf. Revised December 2024. Accessed December 5, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/761352s001lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-12-04",
"last_updated": "2024-12-05",
"_deprecated": false,
"feature_display": "NRG1 Fusion"
},
{
"feature_type": "Rearrangement",
"gene1": "NRG1",
"gene2": "",
"rearrangement_type": "Fusion",
"locus": "",
"disease": "",
"context": "",
"oncotree_term": "Pancreatic Adenocarcinoma",
"oncotree_code": "PAAD",
"therapy_name": "Zenocutuzumab-zbco",
"therapy_strategy": "NRG1 inhibition",
"therapy_type": "Targeted therapy",
"therapy_sensitivity": 1,
"therapy_resistance": "",
"favorable_prognosis": "",
"predictive_implication": "FDA-Approved",
"description": "The U.S. Food and Drug Administration (FDA) granted accelerated approval to zenocutuzumab-zbco for the treatment of adult patients with advanced, unresectable or metastatic pancreatic adenocarcinoma harboring a neuregulin 1 (NRG1) gene fusion with disease progression on or after prior systemic therapy.",
"source_type": "FDA",
"citation": "Merus N.V. Bizengri (zenocutuzumab-zbco) [package insert]. U.S. Food and Drug Administration website. https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/761352s001lbl.pdf. Revised December 2024. Accessed December 5, 2024.",
"url": "https://www.accessdata.fda.gov/drugsatfda_docs/label/2024/761352s001lbl.pdf",
"doi": "",
"pmid": "",
"nct": "",
"publication_date": "2024-12-04",
"last_updated": "2024-12-05",
"_deprecated": false,
"feature_display": "NRG1 Fusion"
}
]
}
3 changes: 2 additions & 1 deletion moalmanac/config.ini
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Expand Up @@ -14,7 +14,7 @@ level = INFO

[versions]
interpreter = 0.8.0
database = v.2024-10-03
database = v.2024-12-05

[exac]
exac_common_af_threshold = 0.001
Expand Down Expand Up @@ -51,3 +51,4 @@ microsatellite = Microsatellite Stability
burden = Mutational Burden
signature = Mutational Signature
aneuploidy = Aneuploidy
knockdown = Knockdown

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