Gene

SF3B1

splicing factor 3b subunit 1

Explore in graph →CI-GENE-00030440HGNC:10768 ENSG00000115524 NCBI 23451 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (10)

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

civicCuratedShowing 1–10 of 10 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
SF3B1 K666N1
Spliceostatin A	Malignant Breast Neoplasm	Predictive	D	Supports Sensitivity Response	2	accepted	EID1418

Cohorts

Alteration frequency by cohort (156)

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

cbioportalObserved156 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
China Pan-cancer (OrigiMed, Nature 2022) pan_origimed_2020	unmapped	Ssm	226	10,194

Literature

Linked publications (7)

25 per page, newest first.

pubmedPublishedShowing 1–7 of 7 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia.
· Blood · 2016 · PMID 26837699 · validated civic_curation pubmed
Recurrent mutations refine prognosis in chronic lymphocytic leukemia.
· Leukemia · 2015 · PMID 24943832 · validated civic_curation pubmed
SF3B1 mutations in chronic lymphocytic leukemia.
· Blood · 2013 · PMID 23568491 · validated civic_curation pubmed
The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial.
· Blood · 2013 · PMID 23086750 · validated civic_curation pubmed

SF3B1 K700E2
Etoposide + OlaparibSubstitutes	Leukemia	Predictive	D	Supports Sensitivity Response	3	accepted	EID10139 The cancer-associated SF3B1-K700E mutation compromises homologous recombination repair and increases the sensitivity to ionising radiation and DNA damaging agents, such as etoposide or small molecule … (full text at CIViC) PMID 35027467 · Lappin et al., 2022 · Open in CIViC	civic
Spliceostatin A	Malignant Breast Neoplasm	Predictive	D	Supports Sensitivity Response	2	accepted	EID1417 Mutations in SF3B1 were identified in 21/936 ER positive vs. 1/289 ER negative breast cancers. Mutation was recurrent (K700E in 74% or K666Q or K666E in another 9% of tumors). Treatment of two SF3B1 m… (full text at CIViC) PMID 25424858 · Maguire et al., 2015 · Open in CIViC	civic

SF3B1 K700E2

Etoposide + OlaparibSubstitutes

Leukemia

Predictive

Supports Sensitivity Response

accepted

EID10139

The cancer-associated SF3B1-K700E mutation compromises homologous recombination repair and increases the sensitivity to ionising radiation and DNA damaging agents, such as etoposide or small molecule … (full text at CIViC)

PMID 35027467 · Lappin et al., 2022 · Open in CIViC

civic

Spliceostatin A

Malignant Breast Neoplasm

Predictive

Supports Sensitivity Response

accepted

EID1417

Mutations in SF3B1 were identified in 21/936 ER positive vs. 1/289 ER negative breast cancers. Mutation was recurrent (K700E in 74% or K666Q or K666E in another 9% of tumors). Treatment of two SF3B1 m… (full text at CIViC)

PMID 25424858 · Maguire et al., 2015 · Open in CIViC

civic

SF3B1 Mutation7
(prognostic)	Chronic Lymphocytic Leukemia	Prognostic	A	Supports Poor Outcome	5	accepted	EID1540 In a study of 406 previously untreated CLL cases, a multivariate analysis indicated SF3B1 mutations (N=51) were significantly associated with reduced time to first treatment (HR: 1.73; 95%CI: 1.05-2.8… (full text at CIViC) PMID 26837699 · Nadeu et al., 2016 · Open in CIViC	civic
〃	Chronic Lymphocytic Leukemia	Prognostic	B	Supports Poor Outcome	5	accepted	EID1487 In a multivariate analysis of 774 CLL patients, SF3B1 mutations were significantly correlated with shorter time to first treatment (HR=1.644; 95% CI=1.134-2.383). This finding was independent of IGHV … (full text at CIViC) PMID 24943832 · Baliakas et al., 2015 · Open in CIViC	civic
〃	Chronic Lymphocytic Leukemia	Prognostic	B	Supports Poor Outcome	4	accepted	EID510 In patients with chronic lymphocytic leukemia, those with mutations in SF3B1 had shorter time to treatment, progression-free survival, and overall survival. A majority of the mutations are in the C-te… (full text at CIViC) PMID 23568491 · Wan et al., 2013 · Open in CIViC	civic
〃	Chronic Lymphocytic Leukemia	Prognostic	B	Supports Poor Outcome	4	accepted	EID1480 In the randomized phase 3 UK LRF CCL4 trial comparing first-line treatment with chlorambucil, fludarabine, or fludarabine plus cyclophosphamide, SF3B1 mutations (73/437 patients) were associated with … (full text at CIViC) PMID 23086750 · Oscier et al., 2013 · Open in CIViC	civic
〃	Myelodysplastic SyndromeCURATED_BROADER	Prognostic	B	Supports Better Outcome	3	accepted	EID352 Patients with SF3B1 mutations had a statistically significant longer overall survival as well as event free-survival. Both before and after adjustment for age, karyotype and sex. PMID 21995386 · Papaemmanuil et al., 2011 · Open in CIViC	civic
〃	Myelodysplastic SyndromeCURATED_BROADER	Prognostic	B	Supports Better Outcome	3	submitted	EID5931 There was a significant association of SF3B1 mutations with the presence of ring sideroblasts (P < .001) and of mutant allele burden with their proportion (P = .002). The mutant gene had a positive pr… (full text at CIViC) PMID 21998214 · Malcovati et al., 2011 · Open in CIViC	civic
〃	Myelodysplastic SyndromeCURATED_BROADER	Prognostic	B	Supports Better Outcome	2	submitted	EID7135 From a cohort of 944 patients with myelodysplastic syndrome, 311 patients harboring SF3B1 mutations were identified. In univariate analysis of 875 patients with sufficient clinical outcomes data, SF3B… (full text at CIViC) PMID 24220272 · Haferlach et al., 2014 · Open in CIViC	civic

SF3B1 Mutation7

(prognostic)

Chronic Lymphocytic Leukemia

Prognostic

Supports Poor Outcome

accepted

EID1540

In a study of 406 previously untreated CLL cases, a multivariate analysis indicated SF3B1 mutations (N=51) were significantly associated with reduced time to first treatment (HR: 1.73; 95%CI: 1.05-2.8… (full text at CIViC)

PMID 26837699 · Nadeu et al., 2016 · Open in CIViC

civic

〃

Chronic Lymphocytic Leukemia

Prognostic

Supports Poor Outcome

accepted

EID1487

In a multivariate analysis of 774 CLL patients, SF3B1 mutations were significantly correlated with shorter time to first treatment (HR=1.644; 95% CI=1.134-2.383). This finding was independent of IGHV … (full text at CIViC)

PMID 24943832 · Baliakas et al., 2015 · Open in CIViC

civic

〃

Chronic Lymphocytic Leukemia

Prognostic

Supports Poor Outcome

accepted

EID510

In patients with chronic lymphocytic leukemia, those with mutations in SF3B1 had shorter time to treatment, progression-free survival, and overall survival. A majority of the mutations are in the C-te… (full text at CIViC)

PMID 23568491 · Wan et al., 2013 · Open in CIViC

civic

〃

Chronic Lymphocytic Leukemia

Prognostic

Supports Poor Outcome

accepted

EID1480

In the randomized phase 3 UK LRF CCL4 trial comparing first-line treatment with chlorambucil, fludarabine, or fludarabine plus cyclophosphamide, SF3B1 mutations (73/437 patients) were associated with … (full text at CIViC)

PMID 23086750 · Oscier et al., 2013 · Open in CIViC

civic

〃

Myelodysplastic SyndromeCURATED_BROADER

Prognostic

Supports Better Outcome

accepted

EID352

Patients with SF3B1 mutations had a statistically significant longer overall survival as well as event free-survival. Both before and after adjustment for age, karyotype and sex.

PMID 21995386 · Papaemmanuil et al., 2011 · Open in CIViC

civic

〃

Myelodysplastic SyndromeCURATED_BROADER

Prognostic

Supports Better Outcome

submitted

EID5931

There was a significant association of SF3B1 mutations with the presence of ring sideroblasts (P < .001) and of mutant allele burden with their proportion (P = .002). The mutant gene had a positive pr… (full text at CIViC)

PMID 21998214 · Malcovati et al., 2011 · Open in CIViC

civic

〃

Myelodysplastic SyndromeCURATED_BROADER

Prognostic

Supports Better Outcome

submitted

EID7135

From a cohort of 944 patients with myelodysplastic syndrome, 311 patients harboring SF3B1 mutations were identified. In univariate analysis of 875 patients with sufficient clinical outcomes data, SF3B… (full text at CIViC)

PMID 24220272 · Haferlach et al., 2014 · Open in CIViC

civic