Protein kodiran ovim genom je član porodice helikaza RecQ DEAH i stupa u interakciju sa BRCT ponavljanjima raka dojke tipa 1 (BRCA1). Vezani kompleks je važan u normalnoj funkciji popravljanja prekida dvostrukog lanca raka dojke tipa 1 (BRCA1). Ovaj gen može biti meta mutacija koje izazivaju rak zametne linije.[7]
Čini se da je ovaj protein važan i kod raka jajnika, gdje djeluje kao supresor tumora.[8] Mutacije u BRIP1 povezane su sa 10-15% rizikom od raka jajnika.[9]
BRIP1 protein je DNK helikaza koja se koristi u homolognorekombinacijskoj popravci i u odgovoru ćelije na stres replikacije DNK.[11] Djelimično, BRIP1 obavlja svoju funkciju interakcijom s drugim ključnim proteinima za popravku DNK, posebno MLH1, BRCA1 i BLM.[11] Ova grupa proteina pomaže u osiguravanju stabilnosti genoma, a posebno popravlja prekide dvostrukih lanaca DNK tokom profaze 1 mejoze.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Menichini P, Linial M (novembar 2001). "SUVi and BACH1: a new subfamily of mammalian helicases?". Mutation Research. 487 (1–2): 67–71. doi:10.1016/s0921-8777(01)00104-5. PMID11595410.
^Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, et al. (oktobar 2011). "Mutations in BRIP1 confer high risk of ovarian cancer". Nature Genetics. 43 (11): 1104–1107. doi:10.1038/ng.955. hdl:2336/228034. PMID21964575. S2CID24535565.
^Ring KL, Garcia C, Thomas MH, Modesitt SC (novembar 2017). "Current and future role of genetic screening in gynecologic malignancies". American Journal of Obstetrics and Gynecology. 217 (5): 512–521. doi:10.1016/j.ajog.2017.04.011. PMID28411145. S2CID29024566.
^Mani C, Acharya G, Kshirsagar S, Vijayan M, Khan H, Reddy PH, Palle K (2022). "A Novel Role for BRIP1/FANCJ in Neuronal Cells Health and in Resolving Oxidative Stress-Induced DNA Lesions". Journal of Alzheimer's Disease. 85 (1): 207–221. doi:10.3233/JAD-215305. PMID34776453Provjerite vrijednost parametra |pmid= (pomoć). S2CID244078679Provjerite vrijednost parametra |s2cid= (pomoć).
Luo L, Lei H, Du Q, von Wachenfeldt A, Kockum I, Luthman H, et al. (april 2002). "No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22". International Journal of Cancer. 98 (4): 638–639. doi:10.1002/ijc.10214. PMID11920628. S2CID31182390.
Karppinen SM, Vuosku J, Heikkinen K, Allinen M, Winqvist R (februar 2003). "No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families". European Journal of Cancer. 39 (3): 366–371. doi:10.1016/S0959-8049(02)00498-7. PMID12565990.
Rutter JL, Smith AM, Dávila MR, Sigurdson AJ, Giusti RM, Pineda MA, et al. (august 2003). "Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals". Human Mutation. 22 (2): 121–128. doi:10.1002/humu.10238. PMID12872252. S2CID36167584.