Comparison between NOD 2 gene mutation carriers ( 3020 insC ) and non-carriers in breast cancer patients : a clinicopathological and survival analysis

Introduction: The 3020insC mutation of NOD2 predisposes to many types of common cancers, e.g. breast cancer. In this report we compare NOD2 3020insC mutation carriers with non-carriers in a similar age range at diagnosis according to clinicopathological factors and survival in breast cancer patients from the Silesia region in Poland.Material and methods: We reviewed the medical records of 72 early breast cancer patients, who were diagnosed and treated in COI in Gliwice. Genetic diagnostics was conducted in all patients. Twenty-eight (39%) patients were NOD2 mutation carriers and 44 (61%) were non-carriers.Results: Triple-negative breast cancer (TNBC) was detected more often in NOD2 mutation carriers than non-carriers (25% vs. 11.4%, p = 0.194). Similarly, lymph nodes without metastases (N0) were reported more frequently in patients with NOD2 mutation (71.4% vs. 43.2%, p = 0.029). HER2 without overexpression was observed insignificantly more often in group with NOD2 mutation (82.1% vs. 63.6%, p = 0.115). Similarly, lower histological grade (G1+G2). There was no difference in tumor size (T1–T2) (89.3% vs. 86.4%, p = 1.00) or steroid receptor status (28.6% vs. 29.5%, p = 1.00) between groups. The median follow-up was 5.1 years (range: 0.6–26.1 years) for NOD2 carriers and 5.3 years (range: 2.0–19.7 years) for non-carriers. There was no difference between mutation carriers and non-carriers according to overall survival (5-year OS: 96% vs. 93%, p = 0.427).Conclusions: There were no differences between NOD2 (3020insC) mutation carriers and non-carriers, according to comorbid condition, drugs, tumor size, steroid receptor status and 5-year overall survival.