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Genetic variations within alternative splicing associated genes are associated with breast cancer susceptibility in

Xuening Xu1, Junzhe Yang2, Wen Zhou3

  • 1Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China; Nuclear Medicine Department, The First Affiliated Hospital of Xuzhou Medical University, Xuzhou 221000, China.

Gene
|May 13, 2019
PubMed
Abstract

Insights

Genetic variations in splicing factor SFRS3, specifically rs2145048, are linked to breast cancer risk in Chinese women. This finding may help identify individuals susceptible to breast cancer.

Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • Alternative splicing is crucial for gene regulation, producing diverse mRNA transcripts.
  • Aberrant splicing can lead to protein isoforms that drive cancer development.
  • Genetic variations in splicing-associated genes may influence splice regulatory elements and protein isoform diversity.

Purpose of the Study:

  • To investigate the association between genetic variations in key alternative splicing genes and breast cancer risk.
  • To determine if polymorphisms in splicing factor genes contribute to breast cancer susceptibility.

Main Methods:

  • A case-control study involving 1064 breast cancer cases and 1073 healthy controls from China.
  • Genotyping of 16 tagging polymorphisms in three splicing factor-associated genes (SFRS3, ESRP1, ESRP2) using Infinium BeadChip.
  • Statistical analysis to evaluate the association between polymorphisms and breast cancer risk using odds ratios (OR) and 95% confidence intervals (CIs).

Main Results:

  • The genotype distribution of rs2145048 in SFRS3 differed significantly between breast cancer cases and controls (Bonferroni corrected P=0.022).
  • The A allele of rs2145048 in SFRS3 was inversely associated with breast cancer risk (adjusted OR=0.81, P=0.001).
  • This association remained significant in subgroups characterized by earlier menarche, older first birth, premenopausal status, and ER/PR negative status.

Conclusions:

  • This study provides the first evidence linking the SFRS3 rs2145048 polymorphism to breast cancer susceptibility in Chinese women.
  • SFRS3 rs2145048 may serve as a potential biomarker for identifying individuals at higher risk of breast cancer.
  • Further research is warranted to elucidate the functional mechanisms underlying this association.
Keywords:
Alternative splicingBreast cancer susceptibilityPolymorphism

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