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Eur J Cancer. 2009 Mar;45(5):837-42. doi: 10.1016/j.ejca.2008.10.021. Epub 2008 Dec 13.

Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers?

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International Hereditary Cancer Centre (IHCC), Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.


We studied whether or not single nucleotide polymorphisms (SNPs), which have been shown to modify the risk of breast cancer in women with a BRCA1 mutation, are associated with cancer risk in unselected (non-hereditary) breast cancer patients. We genotyped seven SNPs in six distinct genes (PHB, RAD51, ITGB3, TGFB1, VEGF, MTHFR) in 1100 unselected Polish breast cancer patients and 1100 controls. The frequencies of genotypes were similar in cases and controls. In a subgroup analysis, we found a positive association between the homozygous genotype PHB 1630C/T and medullary breast cancer (odds ratio (OR)=4.0, 95% confidence interval (CI) 1.1-14.0). PHB 1630C/T was also associated with tumours negative for oestrogen receptor (OR=2.2, 95% CI 1.13-4.4) or progesterone receptor (OR=2.8, 95% CI 1.4-5.8). Our results show that, in general, the single nucleotide polymorphisms which modify the risk of hereditary breast cancer in Poland do not modify the risk of sporadic breast cancer. The PHB 1630 C/T single nucleotide polymorphism was associated with breast cancers with clinical features typical for BRCA1-positive tumours and is deserving of further study.

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