Gene

BACH2

BACH transcriptional regulator 2

Explore in graph →CI-GENE-00021582HGNC:14078 ENSG00000112182 NCBI 60468 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (2)

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

civicCuratedShowing 1–2 of 2 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
BACH2 E788K1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	2	submitted	EID10207 The BACH2 variant E788K was found in a father and daughter displaying inflammation of the bowel, pulmonary disease, bronchiectasis, and fibrosis. Functional analysis showed that BACH2 wild-type protei… (full text at CIViC) PMID 28530713 · Afzali et al., 2017 · Open in CIViC	civic
BACH2 L24P1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	2	submitted	EID10209 A female with infancy-onset colitis who later presented with non-infectious fever, splenomegaly and pancytopenia was found to have a BACH2 L24P mutation by whole exome sequencing. Expression of the wi…

Cohorts

Alteration frequency by cohort (5)

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

cbioportalObserved5 cohort rows · 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
Metaplastic Breast Cancer (MSK,NPJ Breast Cancer 2021) mbc_msk_2021	Breast Metaplastic Carcinoma	Ssm	1

Literature

Linked publications (0)

Data not yet available

No publication linked to this gene yet.