BRIP1

• OMIM: 605 ​​882
• UniProt: Q9BX63

Fanconi 's anemia group -J- protein ( FANCJ ) (gene name: BRIP1 ) is an enzyme in eukaryotes that is able to repair double-stranded DNA by homologous recombination. It is found exclusively in the nucleus. In humans, FANCJ is produced in the testes most. Mutations in BRIP1 gene can lead to FANCJ deficiency, and this increased to hereditary risk for breast cancer or rare Fanconi anemia.

FANCJ belongs to the family of RecQ DEAH helicases. It interacts with the BRCT units of the BRCA1 protein. The resulting binding complex has an important function in the repair of genetic defects. It opens the strands of the DNA double helix.

BRIP1 the gene is located on chromosome 17 q23.2, gene locus in humans. On the same chromosome is also BRCA1.

Discovery and function

In the extremely rare Fanconi anemia the BRIP1 gene was first discovered. If both copies of the gene is mutated, it results in those affected to a collapse of the hematopoietic system in the bone marrow, as well as to an increased risk of cancer.

2006 examined the British Institute of Cancer Research in 1212 breast cancer patients without BRCA1 mutation. Of which contributed nine ( 0.74 %) a mutation of BRIP1. In a comparison group of 2081 healthy women, only two ( = 0.1 %) had the BRIP1 mutation. The mutation in the encoded BRIP1 gene protein is obviously beyond repair DNA damage in the situation. As a result, the likelihood of developing breast cancer increases. It is estimated that women with a mutation in a gene BRIP1 twice as likely to have breast cancer.