The contribution of SIPA1 and RRP1B germline polymorphisms to breast cancer phenotype, lymph node status and survival in a group of Lithuanian young breast cancer patients

Biomarkers. 2016;21(4):363-70. doi: 10.3109/1354750X.2016.1141989. Epub 2016 Feb 22.

Abstract

The germline polymorphisms in signal-inducing proliferation-associated protein 1 (SIPA1) and ribosomal RNR processing 1B (RRP1B) might be involved in breast cancer metastasis. The aim of this study was to analyze how SIPA1 and RRP1B polymorphisms contribute to breast cancer phenotype, lymph node status and survival. A group of 100 young, I-II stage breast cancer patients were analyzed for SIPA1 and RRP1B polymorphisms with PCR-RFLP assay. SIPA1 c.2760G > A, c.545C > T and RRP1B c.436T > C polymorphisms were associated with lymph node status, survival and tumor grade, respectively. Our results suggest that SIPA1 and RRP1B germline polymorphisms are important for breast cancer prognosis.

Keywords: Breast cancer; genes; genetic polymorphisms; metastasis.

MeSH terms

  • Adult
  • Apoptosis Regulatory Proteins / genetics*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Chromosomal Proteins, Non-Histone / genetics*
  • Female
  • GTPase-Activating Proteins / genetics*
  • Germ-Line Mutation*
  • Humans
  • Lithuania
  • Lymphatic Metastasis / genetics*
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Phenotype
  • Polymorphism, Genetic*
  • Survival Analysis

Substances

  • Apoptosis Regulatory Proteins
  • Chromosomal Proteins, Non-Histone
  • GTPase-Activating Proteins
  • Nuclear Proteins
  • RRP1B protein, human
  • SIPA1 protein, human