Bronchus cancer

Summary

Bronchus cancer (MONDO:0001672) is a cancer with 12 GWAS associations across 17 studies and 2 clinical trials. A subtype of respiratory system cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 12
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bronchus cancer
Mondo ID	MONDO:0001672
DOID	DOID:1325
ICD-11	1501594633
NCIT	C156885
SNOMED CT	363493006
UMLS	C1322284
MedGen	730206
Anatomy (UBERON)	UBERON:0002185
Is cancer (heuristic)	yes

Also known as: bronchus cancer · cancer of bronchus · malignant bronchus neoplasm · malignant neoplasm of bronchus · malignant neoplasm of bronchus and lung · malignant neoplasm of bronchus and lung, unspecified

Data availability: 12 GWAS associations (17 studies).

Disease family

This is a subtype of respiratory system cancer. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › respiratory system cancer › bronchus cancer

Related subtypes (8): nasal cavity cancer, tracheal cancer, larynx cancer, pharynx cancer, pleural cancer, lung cancer, SMARCA4-deficient sarcoma of thorax, paranasal sinus cancer

Subtypes (2): bronchogenic carcinoma, main bronchus cancer

Genetics & variants

GWAS landscape

12 GWAS associations across 17 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs17486278	3e-65	CHRNA5	A	0.21
rs55781567	7e-64	CHRNA5	C	0.22
rs56113850	3e-24	CYP2A6	T	0.14
rs2853677	5e-21	TERT	G	0.12
chr5:1344458	3e-19		G	0.11
rs7726159	7e-18	TERT	?
rs13036436	1e-13	CHRNA4	G	0.11
rs11571818	2e-12	BRCA2	T	0.41
rs6011779	6e-12	CHRNA4	C	0.1

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475573	Verma A	2024	13,065	434,597	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079590	Backman JD	2021	3,122	384,752	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083576	Backman JD	2021	3,122	384,752	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90475572	Verma A	2024	2,647	118,437	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479789	Verma A	2024	2,647	118,437	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079589	Backman JD	2021	2,548	385,381	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083575	Backman JD	2021	2,548	385,381	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651191	Liu TY	2025	2,538	234,290	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90079088	Backman JD	2021	2,464	71,766	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083074	Backman JD	2021	2,464	71,766	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	2
Tier 3: regulatory	0
Tier 4: intronic/intergenic	7

MAF distribution

Bucket	Variants
common (>=0.05)	8
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intron_variant	6
5_prime_UTR_variant	1
unknown	1
splice_polypyrimidine_tract_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs17486278	15	78575140	A>C	0.32	intron_variant	CHRNA5	3e-65	Tier 4: intronic/intergenic
rs55781567	15	78565644	C>G	0.336	5_prime_UTR_variant	CHRNA5	7e-64	Tier 2: splice/UTR
rs56113850	19	40847202	T>C	0.485	intron_variant	CYP2A6	3e-24	Tier 4: intronic/intergenic
rs2853677	5	1287079	G>A,C,T	0.392	intron_variant	TERT	5e-21	Tier 4: intronic/intergenic
chr5:1344458				0.428			3e-19	Tier 4: intronic/intergenic
rs7726159	5	1282204	C>A	0.05	intron_variant	TERT	7e-18	Tier 4: intronic/intergenic
rs13036436	20	63357030	G>A,C	0.255	intron_variant	CHRNA4	1e-13	Tier 4: intronic/intergenic
rs11571818	13	32394673	T>A,C	0.009	splice_polypyrimidine_tract_variant	BRCA2	2e-12	Tier 2: splice/UTR
rs6011779	20	63352965	C>G,T	0.202	intron_variant	CHRNA4	6e-12	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01575314	Not specified	COMPLETED	Cost-consequence Analysis of Parenchymal Stapling Device Versus Hand-sewing for Pulmonary Lobectomy in Lung Disease
NCT02378337	Not specified	COMPLETED	Defining PET / CT Protocols With Optimized F18-FDG (Fluorodeoxyglucose) Dose, Focusing on Reduced Radiation Dose and Improved Image Quality