Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population.

ABSTRACT:

Background

Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present study examines the potential association between SNPs in driver genes SF3B1 (rs4685), TBX3 (rs12366395, rs8853, and rs1061651) and MAP3K1 (rs72758040) and BC in BRCA1/2-negative Chilean families.

Methods

The SNPs were genotyped in 486 BC cases and 1258 controls by TaqMan Assay.

Results

Our data do not support an association between rs4685:C > T, rs8853:T > C, or rs1061651:T > C and BC risk. However, the rs12366395-G allele (A/G + G/G) was associated with risk in families with a strong history of BC (OR = 1.2 [95% CI 1.0-1.6] p = 0.02 and OR = 1.5

SUBMITTER: Morales-Pison S 

PROVIDER: S-EPMC9153104 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature