Molecular characteristics of breast cancer according to clinicopathological factors

Abstract

The purpose of the present study was to evaluate the correlation between molecular factors such as BRCA1 DNA repair associated (BRCA1), checkpoint kinase 2 (CHEK2) and nucleotide binding oligomerization domain containing 2 (NOD2) gene mutations and clinicopathological factors in patients with breast cancer (BC). Prognostic factors were analyzed in BC patients with confirmed BRCA1 (n=73), CHEK2 (n=51) and NOD2 (n=31) mutations. The control group was selected from BC patients without mutations (n=392). The BRCA-associated cancer cases were significantly more often triple negative compared with sporadic cancer (62% vs. 14%; P=0.0001). Luminal B HER2-positive and HER2-positive non-luminal subtypes were observed more often in the control group (33 and 17%). The luminal A subtype was detected in 53% of CHEK2 mutation carriers and 45% of NOD2 mutation carriers. A lower histological grade was observed significantly more often in patients with CHEK2 mutations in comparison with the control group (88 vs. 69%; P=0.003). Lymph nodes without metastases were reported more frequently in NOD2 mutation carriers (74 vs. 54%; P=0.038), in BRCA1 mutations (73 vs. 54%; P= 0.004) and, although not significantly, in CHEK2 mutation carriers (69 vs. 54%; P=0.071) compared with the control group. In conclusion, BRCA1 mutation was associated with TNBC and the luminal B HER2 (-) subtype. HER2-positive subtypes were characteristic of the control group. CHEK2 and NOD2 mutation carriers had a more favorable profile of prognostic factors.

Bioinformatics analysis of prognostic value of PITX1 gene in breast cancer

“…NOD2 increases the risk of breast cancer [ 22 ], the research showed that the overexpression of NOD2 inhibited cell proliferation and promoted clone formation in three negative breast cancer cell lines [ 23 ]. The incidence of lymph nodes without metastatic is higher in carriers of NOD2 mutations as a prognostic factor [ 24 ]. Therefore, the positive correlation between NOD2 and PITX1 gene is reliable.…”

Molecular contribution of BRCA1 and BRCA2 to genome instability in breast cancer patients: review of radiosensitivity assays

“…Cyclin D with the cooperation of CDK4/6 regulates the events is the early G1 phase. Cyclin E-CDK2 are responsible to initiate S phase, Cyclin A with CDK2 and then CDK1 involve in the completion of S phase for entry into mitosis, and Cyclin B-CDK1 fascinate this entry expression of cytokeratin (CK) 5/6 and CK14 with sporadic basal carcinoma [25].…”

“…BRCA1 mutated breast cancer is known to be triple-negative breast cancers (TNBC), characterized by negative estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). However, they manifest the same immunohistochemical profiles for the positive expression of cytokeratin (CK) 5/6 and CK14 with sporadic basal carcinoma [ 25 ].…”

Molecular biological subtypes of breast cancer in BRCA1 mutation carriers

“…рисунок). Количество опухолей с отрицательным статусом РЭ при носительстве BRCA1-мутации значительно выше, чем в общей группе больных РМЖ, и варьирует в диапазоне 67-88 % [2][3][4][8][9][10][11][12]. Полученный нами показатель 72,7 % соответствует данным других работ.…”

“…J. Huszno и соавт. отнесли к подтипу LumВ-27 % опухолей, к LumA -7 % [12]. В работе I. Sønderstrup и соавт.…”