ArticleMolecular genetics & genomic medicine2022
Mutations in exon region of BRCA1-related RING domain 1 gene and risk of breast cancer.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Association of NUDT17 rs9286836 and rs2004659 variants with breast cancer risk in Bangladeshi Women.PloS one · 2026Article
- Characterization of a Genetic Variant inBiomedicines · 2025Article
- Zooming into the structure-function of RING finger proteins for anti-cancer therapeutic applications.American journal of cancer research · 2023Review
- BARD1 mystery: tumor suppressors are cancer susceptibility genes.BMC cancer · 2022Review
- Mutations in exon region of BRCA1-related RING domain 1 gene and risk of breast cancer.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBRCA1-associated RING Domain 1 (BARD1) is an important gene related to breast cancer development. However, the role of BARD1 mutations in breast cancer remains inconclusive. This study is to investigate the relationship between exon mutations of BARD1 gene and the risk of early-onset breast cancer.
methodsTotally, 60 cases of early-onset breast cancer patients (age 30-40 years) and 240 healthy women (age 30-40 years) were enrolled. Exon mutations of BARD1 were detected and analyzed by direct sequencing and SNaPshot.
resultsThe risk of breast cancer was increased by 3.475 times in carriers with deletion mutation at rs28997575 site of BARD1 (aOR
conclusionThe deletion mutation at rs28997575 locus of the BARD1 gene can significantly increase the risk of breast cancer. The mutation genotype of rs2229571 locus can significantly reduce the risk of breast cancer. Family history is associated with BARD1 gene polymorphism. A family history of breast cancer may be a risk factor for breast cancer.
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