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Background  Gastric cancer (GC) is part of the spectrum of diseases linked to  BRCA1  and  BRCA2  mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among  BRCA1  and  BRCA2  mutation carriers are based almost exclusively on indirect studies. The objective was to assess in a direct study whether there is a relationship between GC and selected recurrent  BRCA1  and  BRCA2  mutations in the Polish population.    Methods  Three hundred seventeen GC patients (193 males and 124 females; mean age 59.5 ± 12.8 y) diagnosed at the Department of Gastroenterology at the Pomeranian Medical University were included in this retrospective study. All patients were genotyped for 3  BRCA1  Polish founder mutations (5382insC, C61G and 4153delA) as well as for 9 known recurrent mutations in  BRCA1  and  BRCA2  genes. Genotyping was performed using allele-specific oligonucleotide polymerase chain reaction (ASA-PCR) for 4153delA and 5382insC, restriction fragment length polymorphism (PCR-RFLP) for C61G and TaqMan real-time PCR for 185delAG, 3819del5, 3875del4, 5370C > T, 886delGT, 4075delGT, 5467insT, 6174delT and 8138del5.    Results  Among tested mutations one founder  BRCA1  mutation 5382insC was detected in two of 317 (0.63 %) GC cases. A comparison of frequency of detected  BRCA1  founder mutations in GC patients to previously described 4570 Polish controls (0.63 % vs. 0.48 %) failed to indicate an increased risk of GC in the mutation carriers (OR = 1.3; 95 % CI 0.3-5.6,  p  = 0.71). A comparison of frequency of GC male cases and male controls (1.0 % vs. 0.43 %,OR = 1.5; 95 % CI 0.3-6.4,  p = 0.61 ) allowed to formulate the same conclusion that there is no increased risk for GC for males. None of the 9 recurrent  BRCA1  and  BRCA2  mutations has been detected in tested GC patients.    Conclusion  The current study indicates that founder  BRCA1  mutations reported in Polish breast/ovarian cancer patients do not contribute to increased GC risk. The nine tested recurrent  BRCA1  and  BRCA 2 mutations were not detected in GC patients which may suggests that they are rare in GC patients in the Polish population. Further analyses, including sequencing of entire sequences of  BRCA1  and  BRCA2  genes, are necessary to ultimately determine the role of these two genes in GC in Poland.

BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population