Gene Information
BRCA1 DNA repair associated [Source:HGNC Symbol;Acc:HGNC:1100]
BRCA1 variants are associated with 7 diseases including cholangiocarcinoma and hereditary breast carcinoma and 5 others, with 35 documented clinical phenotypes.
The BRCA1 gene is associated with 7 medical conditions, including:
Research has identified 35 phenotypic features associated with BRCA1 variants:
Ovarian neoplasm
HP:0100615
Underdeveloped nasal alae
HP:0000430
Anemia
HP:0001903
Proximal placement of thumb
HP:0009623
Hypertelorism
HP:0000316
Breast carcinoma
HP:0003002
Dental malocclusion
HP:0000689
Long eyelashes
HP:0000527
Low anterior hairline
HP:0000294
Narrow palate
HP:0000189
Ataxia
HP:0001251
Global developmental delay
HP:0001263
Delayed speech and language development
HP:0000750
Clinodactyly
HP:0030084
Sparse hair
HP:0008070
ClinVar contains 10 variants associated with BRCA1. Below are some notable variants:
NM_007294.4(BRCA1):c.1989C>A (p.Ser663Arg)
Uncertain significanceVCV004527077
Review: criteria provided, single submitter
NM_007294.4(BRCA1):c.3649del (p.Ser1217fs)
PathogenicVCV004526509
Review: criteria provided, single submitter
NC_000017.10:g.(?_41226347)_(41258472_?)del
Likely pathogenicVCV004526424
Review: criteria provided, single submitter
NC_000017.10:g.(?_41209068)_(41228632_?)dup
Likely pathogenicVCV004526423
Review: criteria provided, single submitter
NC_000017.10:g.(?_41267742)_(41277381_?)del
Likely pathogenicVCV004526422
Review: criteria provided, single submitter
There are 8,142 publications about BRCA1 indexed in PubMed. Below are some recent papers:
Utility of CA125 KELIM in predicting benefit from hyperthermic intraperitoneal chemotherapy in patients with advanced ovarian cancer: pooled analysis of KGOG3042 and KOV-HIPEC-01.
Cho HW, Chang SJ, Lim MC
PMID: 41259849
•
2025 Oct 20
•
Int J Gynecol Cancer
Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.
Buckley KH, Dungan ME, Dinh K
PMID: 41256354
•
2025 Oct 3
•
bioRxiv
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Garsed D, Zwimpfer T, Fereday S
PMID: 41255967
•
2025 Oct 3
•
Res Sq
Apigenin-loaded exosome-like vesicles suppress triple-negative breast cancer by modulating miR-155/SOCS1/VHL, miR-146a/IRAK1/TRAF6 and reactivating STING/BRCA1 : Department of Biology, QaS.C., Islamic Azad University, Qaemshahr, Iran.
Gooran Orimi F, Dehpour AA, Bishehkolaei R
PMID: 41254117
•
2025 Nov 18
•
Sci Rep
Gynecologic Cancers: Ovarian Cancer.
Paruchuri B, Miller A
PMID: 41252823
•
2025 Nov
•
FP Essent
Get instant, comprehensive insights on BRCA1 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025