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Gene

B2M

beta-2-microglobulin

Explore in graph →CI-GENE-00021515HGNC:914 ENSG00000166710 NCBI 567 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (7)

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

civicCuratedShowing 1–7 of 7 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
B2M High Expression1
Anti-PD-L1 Monoclonal Antibody	Malignant Lung Neoplasm	Predictive	D	Supports Sensitivity Response	3	submitted

Cohorts

Alteration frequency by cohort (60)

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

cbioportalObserved60 cohort rows (showing 10, 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
Well-Differentiated and Dedifferentiated Liposarcoma Histologic Subvariants (MSK, 2024) lipo_msk_2024	Liposarcoma	Ssm	1	140	0.7%

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.

Mutations Associated with Acquired Resistance to PD-1 Blockade in Melanoma.
· N Engl J Med · 2016 · PMID 27433843 · validated civic_curation pubmed

B2M Loss1
Immune Checkpoint Inhibitor	Melanoma	Predictive	D	Supports Resistance	2	submitted	EID12152 Whole exome sequencing (WES) was performed on 49 longitudinal tumour samples from 17 patients with metastatic melanoma, of whom 10 responded to ICIs/CPB, where 5 had durable responses, while 5 eventua… (full text at CIViC) PMID 29070816 · Sade-Feldman et al., 2017 · Open in CIViC	civic

B2M Loss1

Immune Checkpoint Inhibitor

Melanoma

Predictive

Supports Resistance

submitted

EID12152

Whole exome sequencing (WES) was performed on 49 longitudinal tumour samples from 17 patients with metastatic melanoma, of whom 10 responded to ICIs/CPB, where 5 had durable responses, while 5 eventua… (full text at CIViC)

PMID 29070816 · Sade-Feldman et al., 2017 · Open in CIViC

civic

B2M Mutation3
(oncogenic)	Diffuse Large B-Cell LymphomaCURATED_BROADER	Oncogenic	E	Supports Oncogenicity	4	submitted	EID11930 This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC	civic
〃	Mantle Cell Lymphoma	Oncogenic	E	Supports Oncogenicity	3	submitted	EID11891 Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC	civic
Nivolumab + PembrolizumabSubstitutes	Malignant Colorectal NeoplasmCURATED_BROADER	Predictive	B	Does Not Support Resistance	3	submitted	EID7271 Fifty-nine (3.4%) of 1,751 patients with CRC harbored B2M mutations, with 84% (77 of 92) of the mutations predicted to be truncating. B2M mutations were significantly enriched in MSI-H CRCs, with 44 (… (full text at CIViC) PMID 31008436 · Middha et al., 2019 · Open in CIViC	civic

B2M Mutation3

(oncogenic)

Diffuse Large B-Cell LymphomaCURATED_BROADER

Oncogenic

Supports Oncogenicity

submitted

EID11930

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

civic

〃

Mantle Cell Lymphoma

Oncogenic

Supports Oncogenicity

submitted

EID11891

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL.

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

civic

Nivolumab + PembrolizumabSubstitutes

Malignant Colorectal NeoplasmCURATED_BROADER

Predictive

Does Not Support Resistance

submitted

EID7271

Fifty-nine (3.4%) of 1,751 patients with CRC harbored B2M mutations, with 84% (77 of 92) of the mutations predicted to be truncating. B2M mutations were significantly enriched in MSI-H CRCs, with 44 (… (full text at CIViC)

PMID 31008436 · Middha et al., 2019 · Open in CIViC

civic

B2M S14FS1
Pembrolizumab	Cutaneous MelanomaALIAS	Predictive	C	Supports Resistance	3	accepted	EID1569 Paired tumor samples were analyzed from four patients with metastatic melanoma and initial response with a subsequent relapse under pembrolizumab (PD-1 checkpoint inhibitor) therapy. Baseline biopsies… (full text at CIViC) PMID 27433843 · Zaretsky et al., 2016 · Open in CIViC	civic

B2M S14FS1

Pembrolizumab

Cutaneous MelanomaALIAS

Predictive

Supports Resistance

accepted

EID1569

Paired tumor samples were analyzed from four patients with metastatic melanoma and initial response with a subsequent relapse under pembrolizumab (PD-1 checkpoint inhibitor) therapy. Baseline biopsies… (full text at CIViC)

PMID 27433843 · Zaretsky et al., 2016 · Open in CIViC

civic

B2M Mutation + JAK1 Mutation + JAK2 Mutation + HighB2M JAK1 JAK21
Anti-PD1 Monoclonal Antibody	Malignant Colorectal NeoplasmCURATED_BROADER	Predictive	B	Supports Sensitivity Response	2	submitted	EID12150 Thirty-five MSI-H/dMMR patients were treated with anti-PD-1 therapy. Of the 35 patients, 10 patients harboured B2M mutations, and 8 patients harboured JAK mutations. A low TMB score was noted in patie… (full text at CIViC) PMID 35343934 · Zhang et al., 2022 · Open in CIViC	civic

B2M Mutation + JAK1 Mutation + JAK2 Mutation + HighB2M JAK1 JAK21

Anti-PD1 Monoclonal Antibody

Malignant Colorectal NeoplasmCURATED_BROADER

Predictive

Supports Sensitivity Response

submitted

EID12150

Thirty-five MSI-H/dMMR patients were treated with anti-PD-1 therapy. Of the 35 patients, 10 patients harboured B2M mutations, and 8 patients harboured JAK mutations. A low TMB score was noted in patie… (full text at CIViC)

PMID 35343934 · Zhang et al., 2022 · Open in CIViC

civic