Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 3,217 | 422 | 2,752 |
| Samples | 1,336 | 226 | 1,087 |
| Peptides | 1,209 | 181 | 1,041 |
Function
BRCA2 · BRCA2 DNA repair associated
The product of this gene in involved in maintenance of genome stability. It is involved in double-strand break repair pathways during mitotic and meiotic homologous recombination and functions in protecting DNA replication forks. The encoded protein contains sites for interactions with PALB2 and EMSY and an N-terminal DNA binding domain. It also contains a RAD51 binding domain with multiple components. It has multiple BRC repeats, an alpha helix domain, oligonucleotide binding folds, and a tower-like domain. It has a nuclear localization signal and a phosphorylation site for cyclin-dependent kinase. The C-terminus of the protein can bind single-stranded and double-stranded DNA. The product of this gene interacts with multiple proteins, including RAD51. It is involved in recruiting RAD51 filaments to DNA double-strand break sites and also in cytoplasmic division. It also acts as a tumor suppressor. Mutations in this gene or decreased expression have been implicated in multiple tumor types, including breast, ovarian, pancreatic, prostate and other cancers. [provided by RefSeq, May 2026].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 1207 amino-acid changes on canonical ENST00000380152 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in BRCA2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BRCA2 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 44/133 33% |
| T-Lymphoblastic Leukemia | 7/40 18% | 0/0 0% |
| Endometrial Carcinoma | 13/42 31% | 66/612 11% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Melanoma | 17/210 8% | 123/1899 6% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 59/956 6% |
| Colorectal Carcinoma | 29/143 20% | 148/3239 5% |
| Gastric Carcinoma | 7/74 9% | 79/1809 4% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 30/810 4% |
| Non-Small Cell Lung Carcinoma | 18/304 6% | 51/1390 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Cervical Carcinoma | 3/35 9% | 13/422 3% |
| Rhabdomyosarcoma | 1/33 3% | 6/171 4% |
| Other Solid Cancers | 3/94 3% | 47/1515 3% |
| Biliary Tract Carcinoma | 4/54 7% | 25/950 3% |
| Esophageal Carcinoma | 0/23 0% | 22/769 3% |
| Neuroendocrine Tumour | 5/154 3% | 14/577 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 19/752 3% |
| Head and Neck Carcinoma | 9/85 11% | 31/1574 2% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 55/2550 2% |
| Hepatocellular Carcinoma | 4/46 9% | 48/2210 2% |
| Ovarian Carcinoma | 11/109 10% | 14/998 1% |
| Burkitts Lymphoma | 5/32 16% | 0/196 0% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Breast Carcinoma | 15/144 10% | 47/3264 1% |
| Non-Cancerous | 3/104 3% | 13/830 2% |
| Glioma | 2/52 4% | 32/2127 2% |
Mutation Distribution
Where BRCA2 is mutated · all tissues, split by cell line vs tissue
How many mutations in BRCA2 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 3,217 mutations in BRCA2
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|