Gene Information
BRCA1 interacting DNA helicase 1 [Source:HGNC Symbol;Acc:HGNC:20473]
BRIP1 variants are associated with 2 diseases including Fanconi anemia and hereditary breast ovarian cancer syndrome, with 9 documented clinical phenotypes.
The BRIP1 gene is associated with 2 medical conditions, including:
Research has identified 9 phenotypic features associated with BRIP1 variants:
Autosomal recessive inheritance
HP:0000007
Intrauterine growth retardation
HP:0001511
Chromosomal breakage induced by crosslinking agents
HP:0003221
Bone marrow hypocellularity
HP:0005528
Microphthalmia
HP:0000568
Global developmental delay
HP:0001263
Postnatal growth retardation
HP:0008897
Short thumb
HP:0009778
Multiple cafe-au-lait spots
HP:0007565
ClinVar contains 10 variants associated with BRIP1. Below are some notable variants:
NM_032043.3(BRIP1):c.2485del (p.Gly830fs)
PathogenicVCV004294276
Review: criteria provided, single submitter
NM_032043.3(BRIP1):c.1511_1515dup (p.Pro506fs)
PathogenicVCV004294256
Review: criteria provided, single submitter
NM_032043.3(BRIP1):c.12del (p.Met4fs)
PathogenicVCV004294253
Review: criteria provided, single submitter
NM_032043.3(BRIP1):c.2257+2_2257+8del
Likely pathogenicVCV004294231
Review: criteria provided, single submitter
NM_032043.3(BRIP1):c.2492_2492+3del
Likely pathogenicVCV004294230
Review: criteria provided, single submitter
There are 387 publications about BRIP1 indexed in PubMed. Below are some recent papers:
Salpingectomy in individuals at high risk for tubo-ovarian cancer - consensus and precaution.
Wilke RN, Pennington KP, Gootzen TA
PMID: 41183726
•
2025 Nov 1
•
Am J Obstet Gynecol
Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting.
Christopher J, Edgerley K, McIldowie B
PMID: 41159931
•
2025 Oct 1
•
J Med Genet
Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.
Rodriguez-Hernandez A, Horiguchi M, Horton C
PMID: 41092038
•
2025 Oct 13
•
J Natl Cancer Inst
Integrated computational and experimental approach to identify Nrf2-regulated molecular targets in cerebral ischemia.
Lewczuk A, Boratyńska-Jasińska A, Charzewski Ł
PMID: 41091415
•
2025 Oct 15
•
Pharmacol Rep
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Ngeow J, Chiang J, Astiazaran-Symonds E
PMID: 41070818
•
2025 Nov
•
Genet Med
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Last updated: 11/20/2025