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Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15-20% of hereditary breast cancer. We investigated the BRCA1 and BRCA2 mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of BRCA1 and BRCA2 in 25 subjects (21.9%). Two such mutations in eight patients were novel (not reported in any variant database or previous study). Six mutations have been reported as disease-causing mutations in public databases. Seven mutations were found only in a single nucleotide polymorphism database and one mutation has been reported in Korea. The BRCA1/2 mutation frequency was similar to that of other studies on familial breast cancer patients in the Korean population. Further studies should examine more cases and mutations of whole exons. [ABSTRACT FROM AUTHOR]

Objective: The few studies on the associations between cytokines and depressive mood in patients with cancer have produced conflicting results. This study investigated the associations between plasma cytokines and depressive mood in patients with breast cancer using a large panel of pro-inflammatory, anti-inflammatory, and immune-modulating cytokines. Methods: We recruited 273 hospitalized patients with breast cancer awaiting surgery. Preoperative plasma samples were obtained for cytokine analysis, including pro-inflammatory (interleukin [IL]-2, IL-12, interferon [IFN]-γ, and tumor necrosis factor [TNF-α]), anti-inflammatory (IL-4, IL-5, IL-10, and IL-13), and immune-modulating (granulocyte/macrophage colonystimulating factor [GM-CSF]) cytokines. Depressive mood was measured using the Montgomery-Asberg Depression Rating Scale (MADRS) at 2-5 days postoperatively, when the patients could cooperate. Covariates included various demographic and clinical characteristics. The association between the MADRS score and each cytokine level was estimated using linear regression models. Results: Cytokine levels were significantly inter-correlated. Depressive mood was associated with lower levels of pro-inflammatory (IL-2, IL-12, and TNF-α), anti-inflammatory (IL-5, IL-10, and IL-13), and immune-modulating (GM-CSF) cytokines independent of potential covariates such as living area or functional level. Conclusions: The findings suggest that depressive mood is associated with a generally decreased inflammatory reaction or immune function in patients with breast cancer. [ABSTRACT FROM AUTHOR]