Introduction: The purpose of the present study was to characterise patients with breast cancer (BC) and NOD2-mutation (age ≥ 50 years) according to their clinicopathological factors or family history. Patients aged ≥ 50 years were compared with the control group and with NOD2-mutation carriers aged < 50 years.
Material and methods: Prognostic factors were analysed in patients with BC with confirmed NOD2 c.3016_3017insC (n = 150) mutations. The control group was selected from patients with BC without mutations (n = 376).
Results: There were significant differences between NOD2-mutation carriers and the control group aged ≥ 50 years, according to HER2 overexpression (p = 0.0001), ER (-) (p = 0.007), PR (-) (p = 0.003), T1-T2 (p = 0.011), and G3 (p = 0.036). Similarly, significant differences were observed between NOD2-mutation carriers and the control group aged < 50 years, according to HER2 overexpression (p = 0.0001), ER (-) (p = 0.049), and N (+) (p = 0.038). In patients aged ≥ 50 years, family history of cancer, including BC, was observed more often in NOD2-mutation carriers compared with the control group of patients (OR = 1.66; p = 0.072, for BC in family history: OR = 2.65; p = 0.002). NOD2-mutation carriers aged ≥ 50 years had significantly less frequent G3 (p = 0.004) and HER2 overexpression (p = 0.043) compared with patients with NOD2 mutation aged < 50 years.
Conclusions: The presence of the NOD2 mutation is not only characteristic of younger patients but also in patients > 50 years of age. In NOD2-mutation carriers aged ≥ 50 years, the presence of larger tumour size, G3, or HER2 overexpression were lower compared with younger patients with NOD2 mutation.
Keywords: NOD2 mutation; breast cancer; family history of cancer.
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