Rectosigmoid junction neoplasm

Summary

Rectosigmoid junction neoplasm (MONDO:0002423) is a cancer with 3 GWAS associations across 9 studies. A subtype of sigmoid neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	rectosigmoid junction neoplasm
Mondo ID	MONDO:0002423
DOID	DOID:2780
NCIT	C4877
SNOMED CT	126848003
UMLS	C0345873
MedGen	87517
Anatomy (UBERON)	UBERON:0036214
Is cancer (heuristic)	yes

Also known as: neoplasm of rectosigmoid junction · neoplasm of the rectosigmoid junction · rectosigmoid junction neoplasm (disease) · rectosigmoid junction tumor · rectosigmoid junction tumour · rectosigmoid neoplasm · rectosigmoid tumor · rectosigmoid tumour · tumor of rectosigmoid junction · tumor of the rectosigmoid junction · tumour of rectosigmoid junction · tumour of the rectosigmoid junction

Data availability: 3 GWAS associations (9 studies).

Disease family

This is a subtype of sigmoid neoplasm. 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 body system or component › digestive system disorder › intestinal disorder › large intestine disorder › colonic disorder › colonic neoplasm › sigmoid neoplasm › rectosigmoid junction neoplasm

Related subtypes (1): sigmoid colon cancer

Subtypes (1): rectosigmoid junction cancer

Genetics & variants

GWAS landscape

3 GWAS associations across 9 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs552335209	2e-16	CCDC190	C	2.45
rs564508445	1e-11	PRICKLE2	A	2.88
rs541745821	2e-11	UTP23	C	2.54

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477181	Verma A	2024	3,185	446,673	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90041808	Jiang L	2021	2,202	454,146	A generalized linear mixed model association tool for biobank-scale data.
GCST90435579	Zhou W	2018	2,095	382,756	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90079582	Backman JD	2021	1,074	386,842	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083568	Backman JD	2021	1,074	386,842	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477180	Verma A	2024	788	120,678	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479782	Verma A	2024	788	120,678	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90043856	Jiang L	2021	413	455,935	A generalized linear mixed model association tool for biobank-scale data.
GCST90481487	Verma A	2024	332	59,406	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

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

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	3
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs552335209	1	162850762	C>G,T	0	intergenic_variant	CCDC190	2e-16	Tier 4: intronic/intergenic
rs564508445	3	64373676	A>G	0	intron_variant	PRICKLE2	1e-11	Tier 4: intronic/intergenic
rs541745821	8	116807215	C>T	0	intron_variant	UTP23	2e-11	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.