SMARCA4 Mutation

CI-VAR-00002657Explore in graph →CIViC 217

Curated evidence

Evidence by cancer (6 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–6 of 6 evidence items across 4 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Burkitt Lymphoma1
SMARCA4 Mutation	(oncogenic)	Oncogenic	E	Supports Oncogenicity	3	submitted	EID11828 Described in multiple genome-wide studies PMID 30617194 · Grande et al., 2019 · Open in CIViC	civic
Diffuse Large B-Cell Lymphoma1
SMARCA4 Mutation	(oncogenic)	Oncogenic	E	Supports Oncogenicity	4	submitted	EID11985 This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Small Cell Carcinoma Of The Ovary, Hypercalcaemic Type3unmapped disease
SMARCA4 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID13131 Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) is a rare, poorly differentiated ovarian cancer that predominantly affects younger women and can be particularly challenging to recogniz… (full text at CIViC) PMID 24658002 · Witkowski et al., 2014 · Open in CIViC	civic
SMARCA4 Mutation	(predisposing)	Predisposing	B	Supports Predisposition	4	submitted	EID13132 Pathogenic germline alterations in SMARCA4 were shown to underlie inherited susceptibility to small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT). Across four affected families, distinct c… (full text at CIViC) PMID 24658002 · Witkowski et al., 2014 · Open in CIViC	civic
SMARCA4 Mutation	(oncogenic)	Oncogenic	D	Supports Oncogenicity	3	submitted	EID13133 SMARCA4, which encodes the BRG1 catalytic ATPase subunit of the SWI/SNF chromatin-remodelling machinery, was recurrently disrupted through biallelic loss-of-function events in small cell carcinoma of … (full text at CIViC) PMID 24658002 · Witkowski et al., 2014 · Open in CIViC	civic

Small-cell Carcinoma Of The Ovary Of Hypercalcemic Type1unmapped disease
SMARCA4 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	5	accepted	EID512 Nonsense mutations in SMARCA4 were associated with small cell carcinoma of the ovary, hypercalcemic type in 10/10 tumor samples, and were rarely found in other solid tumor types catalogued by TCGA. PMID 24658004 · Jelinic et al., 2014 · Open in CIViC	civic