rs78393591
This is a upstream gene variant variant in the DROSHA gene.
▶Research that mentions this SNP (1)
▶Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestryAssociationN=9,670Frank Qian et al.(2016)· Human Genetics
This case-control study examined 822 genetic variants in primary miRNA sequences and 10,468 variants in 38 miRNA biogenesis pathway genes in relation to breast cancer risk among women of African ancestry. The study included 1,657 cases and 2,029 controls from the ROOT consortium with replication in 3,153 cases and 2,831 controls from the AABC consortium. Key findings identified SNPs associated with overall breast cancer risk and estrogen receptor (ER)-specific risk, including rs73991220 in mir-4725 (ER-negative; OR=1.27, p=0.002), rs146287903 in PAPD4 (ER-negative; OR=0.49, p=3.27×10⁻⁴), and rs72631820 in miR-339-3p (ER-positive; OR=1.36, p=0.004).
About DROSHA
This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]
View all DROSHA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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