XRCC4 c.1394G>T Single Nucleotide Polymorphisms and Breast Cancer Risk among Filipinos

Document Type : Research Articles


1 The Graduate School, University of Santo Tomas, Manila, Philippines.

2 Research Center for the Natural and Applied Sciences, University of Santo Tomas, Manila, Philippines.

3 University of Santo Tomas Hospital, Benavides Cancer Institute, Manila, Philippines.

4 College of Science, University of Santo Tomas, Manila, Philippines.


Background: The identification of cancer-associated single nucleotide polymorphisms (SNP) and mutation
genes is a promising approach in recognizing individuals who are at risk of developing cancer. Hence, this study
was conducted to determine the association between XRCC4 c.1394G>T SNP and breast cancer development among
Filipinos. Methods: Genotyping for XRCC4 c.1394G>T SNP was performed on breast cancer patients (n=103) and
their age- and sex- matched clinically healthy controls (n=103) by polymerase chain reaction – restriction fragment
length polymorphism. Results: Significant difference in genotype (p=0.007) and allele (p=0.003) frequencies in XRCC4
c.1394G>T was observed between the breast cancer cases and controls. Carriers of the XRCC4 c.1394 G>T genotype
were observed to have significantly higher risk of developing breast cancer compared to individuals with T/T genotype
(OR=2.67, 95% CI: 1.36 – 5.25). XRCC4 c.1394G>T combined with passive smoking may also significantly increase
risk of breast cancer (OR=14.73; 95% CI= 9.88-18.86). Conclusion: XRCC4 c. 1394G>T may be associated with
breast cancer development among Filipinos.


Main Subjects