Respiratory system cancer

Summary

Respiratory system cancer (MONDO:0000376) is a cancer (an umbrella term covering 9 Mondo subtypes) with 10 GWAS associations across 10 studies. A subtype of cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 9 Mondo subtypes
• GWAS associations: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	respiratory system cancer
Mondo ID	MONDO:0000376
DOID	DOID:0050615
ICD-10-CM	C34
ICD-11	401100796
NCIT	C4571
SNOMED CT	449096009
UMLS	C3164456
MedGen	756863
Anatomy (UBERON)	UBERON:0001004
Is cancer (heuristic)	yes

Also known as: cancer of respiratory system · malignant neoplasm of respiratory system · malignant respiratory system neoplasm · respiratory system cancer

Data availability: 10 GWAS associations (10 studies).

Disease family

This is a subtype of 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

Related subtypes (32): immune system cancer, musculoskeletal system cancer, integumentary system cancer, peritoneum cancer, cardiovascular cancer, reproductive system cancer, malignant giant cell tumor, digestive system cancer, lipomatous cancer, thoracic cancer, malignant glomus tumor, malignant mesenchymoma, carcinoma, sarcoma, blastoma, head and neck cancer, malignant mixed neoplasm, nervous system cancer, retroperitoneal cancer, malignant germ cell tumor, malignant mesothelioma, malignant urinary system neoplasm, childhood malignant neoplasm, anaplastic cancer, malignant spindle cell neoplasm, high grade malignant neoplasm, malignant endocrine neoplasm, malignant soft tissue neoplasm, secondary malignant neoplasm, refractory malignant neoplasm, malignant adenoma, cancer of unknown primary site

Subtypes (9): nasal cavity cancer, tracheal cancer, bronchus cancer, larynx cancer, pharynx cancer, pleural cancer, lung cancer, SMARCA4-deficient sarcoma of thorax, paranasal sinus cancer

Genetics & variants

GWAS landscape

10 GWAS associations across 10 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	8e-62	CHRNA5	A	0.2
rs55781567	2e-61	CHRNA5	C	0.21
rs56113850	1e-24	CYP2A6	T	0.13
rs2853669	2e-21	TERT - MIR4457	A	0.12
rs7726159	4e-19	TERT	?
chr5:1344458	3e-18		G	0.11
rs11571818	2e-14	BRCA2	T	0.43
rs13036436	5e-12	CHRNA4	G	0.1

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475571	Verma A	2024	14,001	433,059	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477191	Verma A	2024	2,859	118,073	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479790	Verma A	2024	2,859	118,073	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435589	Zhou W	2018	2,700	406,226	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651188	Liu TY	2025	2,562	234,290	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90399475	Zagkos L	2024	2,307	332,457	Exploring the contribution of lifestyle to the impact of education on the risk of cancer through Mendelian randomization analysis.
GCST90081348	Backman JD	2021	884	387,044	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90085334	Backman JD	2021	884	387,044	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477190	Verma A	2024	697	58,918	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90041822	Jiang L	2021	213	456,135	A generalized linear mixed model association tool for biobank-scale data.

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	6

MAF distribution

Bucket	Variants
common (>=0.05)	7
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intron_variant	5
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	8e-62	Tier 4: intronic/intergenic
rs55781567	15	78565644	C>G	0.336	5_prime_UTR_variant	CHRNA5	2e-61	Tier 2: splice/UTR
rs56113850	19	40847202	T>C	0.485	intron_variant	CYP2A6	1e-24	Tier 4: intronic/intergenic
rs2853669	5	1295234	A>C,G,T	0.269	intron_variant	TERT - MIR4457	2e-21	Tier 4: intronic/intergenic
rs7726159	5	1282204	C>A	0.05	intron_variant	TERT	4e-19	Tier 4: intronic/intergenic
chr5:1344458				0.428			3e-18	Tier 4: intronic/intergenic
rs11571818	13	32394673	T>A,C	0.009	splice_polypyrimidine_tract_variant	BRCA2	2e-14	Tier 2: splice/UTR
rs13036436	20	63357030	G>A,C	0.255	intron_variant	CHRNA4	5e-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: 0.