Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Whole exome sequencing of peripheral blood samples from Tuvan females diagnosed with breast and ovarian cancers (BC/OC) was performed to search for new genes involved in BC/OC pathogenesis. Considering the high cost of whole exome sequencing and study material requirements, 9 samples were selected from 61 genomic DNA samples. A mutation in the LGR4 gene (rs34804482) involved in the tumor-mediated Wnt signaling pathway and a mutation in the BRWD1 gene (rs147211854) involved in chromatin remodeling were identified in BC patients.

[Quality of life in patients with postoperative unilateral diaphragm relaxation].

Objective: To evaluate the quality of life before and after video-assisted thoracoscopic plication of relaxed dome of diaphragm.

Material And Methods: The study included 17 patients operated on for unilateral relaxation of diaphragm. We analyzed quality of life in preoperative period, 1, 3, 6 and 12 months after surgery using the SF-36 and EuroQ-5D-5L questionnaires.

Whole-exome sequencing reveals an association of rs112065068 in TGOLN2 gene with distant metastasis of non-small cell lung cancer.

Early prediction and prevention of recurring illness is critical for improving the survival rates of patients with non-small cell lung cancer (NSCLC). Previously, we demonstrated that the presence of premalignant epithelial changes in the small bronchi distant to the primary tumor is associated with NSCLC progression: isolated basal cell hyperplasia (iBCH) indicates a high risk of distant metastasis, BCH combined with squamous metaplasia (BCH) - a high risk of locoregional recurrence. Here, we aimed to identify germline single nucleotide variants (SNVs) and insertions and deletions (InDels) associated with distant metastasis and locoregional recurrence in cases with iBCH and BCH using whole-exome sequencing of 172 NSCLC patients.

Specific changes in amino acid profiles in monocytes of patients with breast, lung, colorectal and ovarian cancers.

Introduction: Immunometabolism is essential factor of tumor progression, and tumor-associated macrophages are characterized by substantial changes in their metabolic status. In this study for the first time, we applied targeted amino acid LC-MS/MS analysis to compare amino acid metabolism of circulating monocytes isolated from patients with breast, ovarian, lung, and colorectal cancer.

Methods: Monocyte metabolomics was analyzed by liquid chromatography-mass spectrometry/mass spectrometry (LC-MS/ MS) analysis of amino acid extracts.

[Enhanced recovery after lung resection in high-risk patients].

Objective: To study the possibilities of the ERAS program and immediate results in high-risk patients undergoing lung resection.

Material And Methods: The prospective study included 76 high-risk patients. All patients required lobar resection for various lung diseases.