Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population

Breast Cancer Research and Treatment
A-Yong CaoZhi-Ming Shao

Abstract

Certain rare germline mutations in the PALB2 gene have been confirmed to increase susceptibility to breast cancer in diverse populations, but it has not been very clear that whether some common polymorphic variants in PALB2 also increase breast cancer risk. We conducted a case-control study to validate the association of common variations in the PALB2 gene and breast cancer in eastern Chinese population. A total of six common single nucleotide polymorphisms (rs8053188, rs16940342, rs249954, rs447529, rs249935, and rs3096145), which tagged the known common variants (minor allele frequency >0.1) of PALB2, were genotyped among 660 cases and 756 cancer-free controls by SNPstream assay. Except rs3096145, other five SNPs passed the quality assessment criteria with genotyping call rate >95%. Genotype and allele frequencies were statistically different between cases and controls for PALB2 rs447529 and rs249935. PALB2 rs249935 G allele was related to a 1.21-fold (95% confidence interval = 1.02-1.43) increase in risk for each 'A' allele carried (P = 0.029). Based on the dominant inheritance model tests, we found that compared with rs447529 CC homozygotes, the variant homozygote GG and heterozygote GC carriers had a 0.43-fold decreased ri...Continue Reading

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Citations

Feb 25, 2010·Breast Cancer Research and Treatment·Valentina SilvestriLaura Ottini
Jan 16, 2013·Journal of Epidemiology·Wenming CaoJi-Cheng Li
Mar 17, 2016·Genetic Testing and Molecular Biomarkers·Weichao JiangXiaobei Wang
Jan 28, 2014·Asian Pacific Journal of Cancer Prevention : APJCP·Yi-Xia ZhangJing Geng
Oct 1, 2013·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Hongjie LiangXue Qin

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