Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population

INTRODUCTION Gastric cancer (GC) belongs to a group of cancers linked to BRCA2 gene mutations and observed in patients with a family history of breast and ovarian cancers. A common variant allele (C5972T) observed in the BRCA2 gene in the Polish population is associated with an increased risk of breast cancer.

OBJECTIVES The objective of the study was to assess a relationship between the BRCA2 C5972T variant and GC.

PATIENTS AND METHODS A total of 380 patients with GC (234 men and 146 women; mean age, 59.0 ±12.8 years) and 380 sex- and age-matched healthy individuals (234 men and 146 women; mean age, 59.0 ±12.9 years) were included in this retrospective study. Polymerase chain reaction–restriction fragments length polymorphism (PCR-RFLP) was used to detect the BRCA2 C5972T variant. We compared the frequency of BRCA2 allele carriers among patients and controls. We also compared selected clinical and pathological features between allele carriers and noncarriers among patients with GC.

RESULTS The BRCA2 C5972T variant was observed in 28 patients with GC (7.4%) and in 18 controls (4.7%) (P = 0.17). The odds ratio [OR] for GC in allele carriers was 1.59 (95% confidence interval [CI], 0.87–2.94). A comparison of selected clinical and pathological features between carriers and noncarriers did not show any significant differences. The analysis of a family history showed a trend for an increased risk of breast or ovarian cancer in the families of patients with GC carrying the C5972T allele (OR, 2.51; 95% CI, 0.80–7.88, P = 0.11).

CONCLUSIONS Our study showed that the C5972T allele is a low-penetrant variant of the BRCA2 gene, which tended to increase the risk of GC. Further research is needed to fully elucidate the role of BRCA2 polymorphisms in GC.