Mutations in exon region of BRCA1-related RING domain 1 gene and risk of breast cancer.

ABSTRACT:

Background

BRCA1-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.

Methods

Totally, 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.

Results

The risk of breast cancer was increased by 3.475 times in carriers with deletion mutation at rs28997575 site of BARD1 (aOR₁  = 3.475, 95%CI = 1.302-9.276) (p = 0.013). The risk of breast cancer in carriers with GC genotype at

SUBMITTER: Wu J 

PROVIDER: S-EPMC8922950 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature