Gene

CDH1

cadherin 1

Explore in graph →CI-GENE-00040671HGNC:1748 ENSG00000039068 NCBI 999 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (8)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–8 of 8 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
CDH1 A298T1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	3	submitted	EID11140 In 42 families with hereditary diffuse gastric cancer, CDH1 sequencing revealed germline mutations including A298T, W409R, and R732Q. In vitro assays in CHO-K1 cells demonstrated that all three missen… (full text at CIViC) PMID 15235021 · Brooks-Wilson et al., 2004 · Open in CIViC	civic
CDH1 Loss3
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	2	submitted	EID12746 In functional preclinical models, CDH1 loss was associated with activation of ECM–DDR2–AKT signaling and increased sensitivity to kinase inhibition. Reactome analysis of AKT3-associated genes in CDH1-…

Cohorts

Alteration frequency by cohort (144)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved144 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Metastatic Biliary Tract Cancers (SUMMIT - Neratinib Basket Trial, 2022) biliary_tract_summit_2022	unmapped	Ssm	2	34	5.9%

Literature

Linked publications (1)

25 per page, newest first.

pubmedPublishedShowing 1–1 of 1 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Comprehensive mutation profiling of mucinous gastric carcinoma.
· J Pathol · 2016 · PMID 27313181 · validated civic_curation pubmed

CDH1 MUTATION1
(prognostic)	Gastric CarcinomaALIAS	Prognostic	E	Supports Poor Outcome	2	accepted	EID1682 285 intestinal-type tumors and 183 diffuse-type tumors were evaluated for mutational profiles. CDH1 mutations are associated with diffuse type mucinous gastric carcinoma, which indicate worse prognos… (full text at CIViC) PMID 27313181 · Rokutan et al., 2016 · Open in CIViC	civic

CDH1 MUTATION1

(prognostic)

Gastric CarcinomaALIAS

Prognostic

Supports Poor Outcome

accepted

EID1682

285 intestinal-type tumors and 183 diffuse-type tumors were evaluated for mutational profiles. CDH1 mutations are associated with diffuse type mucinous gastric carcinoma, which indicate worse prognos… (full text at CIViC)

PMID 27313181 · Rokutan et al., 2016 · Open in CIViC

civic

CDH1 R732Q1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	3	submitted	EID11142 In 42 families with hereditary diffuse gastric cancer, CDH1 sequencing revealed germline mutations including A298T, W409R, and R732Q. In vitro assays in CHO-K1 cells demonstrated that all three missen… (full text at CIViC) PMID 15235021 · Brooks-Wilson et al., 2004 · Open in CIViC	civic

CDH1 R732Q1

(functional)

—UNRESOLVED

Functional

Supports Loss Of Function

submitted

EID11142

In 42 families with hereditary diffuse gastric cancer, CDH1 sequencing revealed germline mutations including A298T, W409R, and R732Q. In vitro assays in CHO-K1 cells demonstrated that all three missen… (full text at CIViC)

PMID 15235021 · Brooks-Wilson et al., 2004 · Open in CIViC

civic

CDH1 W409R1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	3	submitted	EID11141 In 42 families with hereditary diffuse gastric cancer, CDH1 sequencing revealed germline mutations including A298T, W409R, and R732Q. In vitro assays in CHO-K1 cells demonstrated that all three missen… (full text at CIViC) PMID 15235021 · Brooks-Wilson et al., 2004 · Open in CIViC	civic

CDH1 W409R1

(functional)

—UNRESOLVED

Functional

Supports Loss Of Function

submitted

EID11141

PMID 15235021 · Brooks-Wilson et al., 2004 · Open in CIViC

civic

CDH1 MUTATION + CDKN2A Mutation + CDKN2B Mutation + FGFR2 MutationFGFR2 CDH1 CDKN2A CDKN2B1
Crizotinib + Palbociclib Regimen + PazopanibCombination	Cholangiocarcinoma	Predictive	C	Supports Sensitivity Response	2	submitted	EID12777 In a case report of metastatic cholangiocarcinoma harboring an FGFR2 W290_P307>C (16.25% Variant allele frequency) alteration together with CDH1 Q677fs*7 (23.1% VAF) and CDKN2A/B frameshift mutations … (full text at CIViC) PMID 38645422 · Aydın et al., 2024 · Open in CIViC	civic

CDH1 MUTATION + CDKN2A Mutation + CDKN2B Mutation + FGFR2 MutationFGFR2 CDH1 CDKN2A CDKN2B1

Crizotinib + Palbociclib Regimen + PazopanibCombination

Cholangiocarcinoma

Predictive

Supports Sensitivity Response

submitted

EID12777

In a case report of metastatic cholangiocarcinoma harboring an FGFR2 W290_P307>C (16.25% Variant allele frequency) alteration together with CDH1 Q677fs*7 (23.1% VAF) and CDKN2A/B frameshift mutations … (full text at CIViC)

PMID 38645422 · Aydın et al., 2024 · Open in CIViC

civic