Single nucleotide polymorphisms in the mitochondrial displacement loop and age-at-onset of familial breast cancer

Abstract

Single nucleotide polymorphisms (SNPs) are accumulated frequently in the mitochondrial displacement loop (D-loop) in various types of cancer, and their association with cancer risk and disease outcome has been extensively identified. We have identified specific risk-associated SNP for familial breast cancer patients previously. In this study, we investigated the association between age-at-onset and the SNPs in familial breast cancer patients. The SNP sites of nucleotides 16 311 T/C were identified for their association with age-at-onset using the log-rank test. The age-at-onset of the patients with the minor allele C genotype was significantly earlier than that of patients carrying the T genotype at the site 16 311 (p = 0.032). Accordingly, the genetic polymorphisms in the mitochondrial D-loop are predictive markers for age-at-onset in familial breast cancer patients, which may help to identify familial breast cancer patient subgroups at high risk of early onset.

• Age-at-onset
• D-loop
• familial breast cancer
• genetic polymorphisms
• Kaplan–Meier method

Declaration of interest

The authors report that they have no conflicts of interest. This work was supported by Hebei Science and Technology Research and Development Program (12276101D) and Key basic research program of Hebei (14967713D).

Supplementary material available online

Supplementary Tables S1 and S2