Tumori Journal最新文献

{"title":"Obesity is a predictor in prostate cancer patients receiving prostatectomy after neoadjuvant hormonal therapy","authors":"Lijiang Sun, Ting Xu, Xiaoliang Yuan, Feng Liu, Fengju Guan, D. Ye, Guiming Zhang","doi":"10.1177/0300891619868281","DOIUrl":"https://doi.org/10.1177/0300891619868281","url":null,"abstract":"Objective: This study aimed to investigate the relationship between obesity and pathologic features and biochemical recurrence in patients with prostate cancer (PCa) undergoing radical prostatectomy (RP) after neoadjuvant hormonal therapy (NHT). Methods: A total of 422 consecutive patients with clinically localized PCa who received NHT before RP were retrospectively analyzed. Unconditional multiple logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) regarding probability. A receiver operating characteristic (ROC) curve was used to assess the efficacy of the predictive variables. Castration resistance free survival curves were obtained using the Kaplan-Meier method, and were compared using the log-rank test. Results: Being overweight was associated with an increased risk of positive margins (OR 2.281; 95% CI 1.292–4.028) after adjusting for potential confounders. The area under the ROC curve for overweight patients was larger than that for patients in the normal weight range. There was no significant difference between the overweight and normal weight groups regarding castration resistance free survival. Conclusions: Being overweight was associated with positive margins in patients with PCa undergoing RP after NHT.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"109 1","pages":"133 - 138"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85046368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interval Debulking Surgery After Neodjuvant Chemotherapy Vs Primary Debulking Surgery For Stage Iii Epithelial Ovarian Carcinoma","authors":"BM Ahmed, A. Amin, MK Khallaf, A. Ahmed Refaat, Saad M. Sileem","doi":"10.1177/0300891620914135","DOIUrl":"https://doi.org/10.1177/0300891620914135","url":null,"abstract":"Introduction: Ovarian cancer is the most lethal gynecologic malignancy and is the fifth most common cause of cancer-related death among women. Approach to FIGO stage III epithelial ovarian cancer remains challengeable. This study aims to evaluate the outcome of interval debulking surgery (IDS) vs. primary debulking surgery (PDS) for FIGO stage III epithelial ovarian cancer. Materials and Methods: During a period of six years (January 2014 to December 2019), we analyzed the patients for eligibility criteria, which were: (1) FIGO stage III epithelial ovarian cancer. (2) The age of 18 years or more (3) Patients underwent either PDS or IDS and received chemotherapy at South Egypt Cancer Institute. We divided them into two groups: (1) Those received three cycles of neoadjuvant chemotherapy and then underwent IDS plus three additional cycles of adjuvant chemotherapy and (2) Those who have PDS followed by six cycles of chemotherapy. Results: This study includes 380 eligible patients. The first group included 226 patients (59.47%) underwent PDS then 6 cycles of chemotherapy, while the group of IDS included 154 patients (40.53%). The treatment modality was not significant for overall survival (OS); however disease-free survival (DFS) was significantly reduced after IDS when compared to PDS (median DFS: 33 months; 95% CI 30.23-35.77 vs. 45 months; 95% CI 41.25-48.75 respectively; p= .000). Moreover, in subgroup analysis, OS and DFS were significantly dropped after IDS in elderly patients, patients with bad performance status, sub-optimal cytoreduction as well as high grade and undifferentiated tumors when compared to those who underwent PDS. Conclusion: Although treatment modality may not impact overall survival (OS), however, PDS results in a better disease-free survival than IDS. Moreover, IDS results in a significant drop in OS and DFS in special patients subgroups when compared to PDS. Therefore patients selection should be considered.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"11 1","pages":"15 - 15"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78083934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the Overall 5-Year Survival of Breast Cancer at INO: Data from the 5-Year Prospective Database","authors":"NA Kaddi, N. Berrada, H. Errihani","doi":"10.1177/0300891620914153","DOIUrl":"https://doi.org/10.1177/0300891620914153","url":null,"abstract":"Background: Breast cancer is both the most common and deadliest cancer among women in the world. The objective of this study was to assess breast cancer survival rates. Material and Methods: Prospective study conducted at the National Institute of oncology (INO) Sidi Mohamed Ben Abdellah Rabat .diagnosed patients with cancer from 2013 to 2015. The date of inclusion in the study is the date of histological confirmation of cancer. The survival assessment performed by the Kaplan Meier method, and the comparison between the different classes of a variable was performed by the Log Rank test. Results: 931 cases were collected during this study. According to molecular classification 59% of luminal patients, 25% positive human epidermal growth factor receptors (her2 positive) and 16% basal. The percentage of survival at 5 years, for luminal stage I 93%, stage II 92%, stage III 74% and stage IV 25% ;as well as for basal stage I 92%, stage II 80%, stage III 53% and stage IV 10% ; then the her2 positive stage I 100%, stage II 75% and stage III 70%. Conclusion: The discovery of metastatic cancer decreased breast cancer survival rate, hence the importance of Early Detection Awareness.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"14 1","pages":"23 - 23"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81691363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Variability of Medial and Lateral Borders Delineation in Guidelines for Post-Mastectomy Irradiation Significantly Affects Radiation Dose Received by Left Lung and Heart","authors":"Wessam A. Alsherif, Ranya M. Mousa","doi":"10.1177/0300891620914130","DOIUrl":"https://doi.org/10.1177/0300891620914130","url":null,"abstract":"Background: Delineation of Clinical Target Volume (CTV) is a basic step in 3 Dimensional Conformal (3DCRT). A notable variation however exists among different guidelines in delineation of chest wall (CW) CTV specially for the lateral margin. Some authors used wire localization for the anatomical insertion of the presumed breast It is expected that lateral margin delineation will affect the standard tangential fields and therefore the ipsilateral lung & heart (in left side) volumes irradiated to high dose. Aim of work: Evaluation of the effect of using various guidelines for chest wall CTV delineation on outcome regarding doses received by heart and left lung (in post left mastectomy irradiation) and compare these outcomes to that of wire based delineation (WBD). Methodology: Ten patients with T3/4 &/or N+ left breast cancer were planned for post mastectomy CW-3DCRT. Delineation of CW by one radiation oncologist followed 2 different guidelines namely RTOG & ESTRO in addition to a 3rd anatomical based wire delineation of chest wall underlying the presumed breast. Three CRT plans for the 3 CTVs were compared regarding coverage, homogenity & toxic dose to heart & lt. lung. Results: CTV was a highly significantly smaller when delineated using WBD vs RTOG or ESTRO guidelines. There was no statistically significant difference between the 3 delineated volumes regarding coverage & homogeneity parameters. A highly statistically significant better (lesser) V20Gy & V30Gy received by lt. lung for plans based on WBD (16.0 +/- 4.1% &12.75 +/- 2% respectively) vs those based on ESTRO (19.1 +/- 1.73 & 15.2 +/- 5.1 respectively) or RTOG guidelines (18.22 ± 1.6 & 14.52 ± 5.3 respectively), p=0.001 for V20Gy & 0.01 for V30Gy. For cardiac dose, a statistically significant lower D50% received by the heart in plans based on WBM delineation (101.6 ± 41.2 Gy) compared to plans based on ESTRO & RTOG guidelines based CTV (141 +/- 81cGy & 132 +/- 93 cGy respectively, p= 0-00001). Conclusion: WBD of post lt. mastectomy chest wall CTV delineation significantly reduced toxic dose received by heart & lt. lung. Larger trial with clinical follow up to test for being not inferior to ESMO &/or ESRTO guidelines based treatment regarding local recurrence.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"14 1","pages":"10 - 10"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90682797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence of Immune Related Adverse Events in Patients Treated with Immune Checkpoint Inhibitors, Case Series from Two Tertiary Care Centeers in Dubai, UAE","authors":"M. Omara, E. Abdelgadir, F. Khan, M. Latif, F. Alawadi, M. Koury, D. Elshourbagy, Dina Hamza, S. Kumar, K. Das, Q. Malik, S. Tirmazy","doi":"10.1177/0300891620914156","DOIUrl":"https://doi.org/10.1177/0300891620914156","url":null,"abstract":"Introduction: Immune checkpoint inhibitors (ICI) represent a major component of systemic therapy in advanced malignancy. Studies have reported unique spectrum of toxicity profile of ICI as compared to systemic chemotherapy. Aim of this study is to evaluate toxicities of ICI in our population and to compare this with published data. Material and Methods: We retrospectively reviewed medical records of patients treated with ICI at Dubai hospital and American hospital Dubai from November 2015 to April 2019. After patient identification from hospitals cancer registry, data regarding patients’ demographics, cancer type, type of ICI, adverse events, and duration of treatment were collected. Results: Forty-Five patients were identified with median age of 60 (27-80) years. 27 (60%) patients were male and 18 (40%) were female. Underlying diagnosis was lung cancer (n=25), renal cell cancer (n=6), melanoma (n=5), bladder cancer (n=3), Hodgkins lymphoma (n=3) and other malignancies (n=3). Majority of patients received Nivolumab (n=20, 44%) followed by Pembrolizumab (n=19, 42%), Atezolizumab (n=4, 9%) and Durvalumab (n=2, 5%) respectively. Thyroid dysfunction was the most common side effect observed in 17 (38%) patients including hypothyroidism (n=12, 27%) and hyperthyroidism (n=5, 11%). 53 % patients treated with Nivolumab developed thyroid dysfunction as compared to Pembrolizumab (22%). 7 patients (16%) had elevated liver enzymes. Grade II and III hepatotoxicity was noted in 1 patient (2.2 %) each. One patient (2.2 %) developed grade II skin toxicity. One patient (2.2 %) developed grade III colitis. Grade II, III and IV pneumonitis was observed in 2 (4.4 %), 1 (2.2%) and 1 (2.2%) patient respectively. Immune mediated adverse events were managed according to standard guidelines and 2 patients (4.4 %) had treatment discontinuation due to grade IV Pneumonitis and grade III Colitis. Conclusion: Our study reports relatively higher incidence of thyroid adverse events in patients treated with ICI. The incidence of grade III-IV immune related toxicity remains low. Overall treatment with ICI was tolerated reasonably well and toxicity was manageable.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"6 1","pages":"25 - 25"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78585617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Dosimetrical Analysis of the Magnitude of Isocenter Shifts Using CT-on-Rails Guided Online Adaptive Planning for Left Breast Cancer Patients Treated by Intensity Modulated Radiation Therapy","authors":"K. Mashhour, S. Eliteo, W. Hashem","doi":"10.1177/0300891620914164","DOIUrl":"https://doi.org/10.1177/0300891620914164","url":null,"abstract":"Introduction: This study was conducted to check the accuracy and validity of an automated adaptive planning (AAP) method which combines automated re-contouring and re-planning to check for inter-fractional anatomical changes in breast cancer patients receiving intensity modulated radiation therapy (IMRT) based on a weekly computed tomography (CT)-on rails images dosimetrically viewing the magnitude of difference in isocenter shifts and the degree of dose deviations regarding target coverage and dose received by organs at risk. Methods and Materials: Twenty left sided conservative breast cancer patients were selected for IMRT treatment. Automatic generation of the contours on each repeat CT image was performed by mapping the contours from the planning CT image using deformable image registration. 3D- CRT and IMRT plans were automatically recalculated for each patient. The magnitude of isocenter shifts in postero-anterior (PA), cranio-caudal (CC) and right-left (RL) directions was calculated and the degree of dose deviations regarding target coverage and dose received by organs at risk. Results: In the PA,CC and RL directions, 9.2%, 11.4% and 6.4% of the 100 CT scans didn’t require any position adjustments. The mean isocenter shifts and standard deviation (SD) were 0.5 & 0.6 +/- 1.1mm, 0.3 &0.4 +/- 0.5mm and 0.2 & 0.4+/- 0.6mm for the IMRT and 3D-CRT plans in the PA,CC and RL directions, respectively. 74.1%, 65.1%, and 55.8% required a shift of 1 - 3 mm; 10.5%, 23.9%, and 33.2% required a shift of 3 - 5mm; and 1.5%, 3.3%, and 5.4% required a shift of more than 5 mm, respectively. With respect to target coverage, the D90[Gy] for the breast CTV was 46.2 Gy and 45.6 for the IMRT and 3D-CRT plans. The mean doses to the heart and left lung were reduced by 5.5 %, 3.7 Gy and 4.1%, 2.6 Gy using the AAP method. Conclusions: The fully automated AAP method using CT on rails for online re-planning was effective in reducing the magnitude of isocenter shifts and compensating for target volume coverage underdosing and higher doses perceived by risk organs caused by anatomical inter-fractional changes in breast cancer patients.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"8 1","pages":"32 - 32"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75270270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Camouflage makeup improves quality of life in cancer patients with treatment-related skin changes","authors":"T. Wakeda, T. Okamura, Takuya Kawahara, Y. Heike","doi":"10.1177/0300891619867844","DOIUrl":"https://doi.org/10.1177/0300891619867844","url":null,"abstract":"Background: Cancer treatment causes various skin appearance changes, which affect quality of life (QoL) in patients with cancer. We examined whether camouflage makeup improves QoL in these patients. Methods: Skindex-16 and visual analogue scale scores of 39 female patients with cancer treatment–related skin changes were compared before and 2–3 months after self-administration of camouflage makeup. Results: Camouflage makeup was able to conceal almost all skin changes, improving QoL scores regardless of age, diagnosis, and site of skin changes. Use frequency was significantly higher in patients with skin changes on exposed sites compared with patients with unexposed sites. Conclusions: Even though the patients applied the makeup only when required, they were satisfied with its effect, which improved their QoL. Moreover, the makeup had a positive effect even in patients with changes in unexposed sites, suggesting that clinicians can recommend camouflage makeup to all patients to improve QoL.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"5 1","pages":"100 - 95"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72737598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anterior Intercostal Artery Perforator Flap as a Simple Technique for Partial Breast Reconstruction: Our Institutional Initial Experience","authors":"R. Amira Maher, A. Osman, K. Fahmy, Nouf M. Ebied, Reda A. Eissa","doi":"10.1177/0300891620931670","DOIUrl":"https://doi.org/10.1177/0300891620931670","url":null,"abstract":"Background: The oncoplastic surgery has brought new dimensions to breast conserving surgery and added the aesthetic principles of breast surgery to breast cancer management. Recently there's a lot of volume replacement techniques without significant donor site morbidity .The anterior intercostal artery perforator (AICAP) flap is a suitable option in partial breast reconstruction for lower pole tumors in small and medium sized breasts. Objectives: The aim of this study is to report our clinical experience with anterior intercostal perforator flap in partial breast reconstruction Methodology: 25 cases were performed between April 2018 to June 2019 at in Ain shams university hospitals for selected patients with lower breast pole tumors with small and medium sized breast and other option like reduction mMDTmoplasty wasn't favorable for them. Results: A total of 25 patient were selected by the multidisplinary team at Ain shams university hospital for partial breast reconstruction with anterior intercostal artery perforator flap . The mean age of the cases was 45.68 with mean body mass index of 32.32. The mean operative time for the flap was 64 minutes while the hospital stay was ranging from 1-2 days .Follow-up for local recurrence was from 6 to 14 months. There was 1 case with wound complication (4%). The cosmetic outcome was assessed by the MDT and a giving score from 1-5 was used with 1 is the least favorable cosmetic outcome and 5 is the best result 76% of the cases scored 5, 14% scored 4, 8% scored 3. According to patient satisfaction a score from 1 to 5 was used with the score 1 is least satisfied and score 5 represents the most satisfaction level, there was 80% of the patient gave the score 5, 12% of the cases gave the score 4 and 8% of the cases gave the score 3 Conclusions: Based on our experience, partial breast reconstruction using AICAP flap is a reliable option for lower breast tumors in small-to-moderate breast size with perfect cosmetic outcome and negligible rate of complication.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"54 1","pages":"40 - 40"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82718264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathologic Parameters and Survival Data in Non-Metastatic Breast Cancer Patients in Correlation with Tumour Infiltrating Lymphocytes, Androgen Receptor and Insulin-Like Growth Factor Receptor 1 Expression","authors":"JM Njenga, A. El-Gowily, W. Arafat, D. Abdalla, Y. Rostom","doi":"10.1177/0300891620914157","DOIUrl":"https://doi.org/10.1177/0300891620914157","url":null,"abstract":"Introduction: The constantly evolving nature of breast cancer (BC) makes it paramount to identify and evaluate more biomarkers that may have a predictive and prognostic value. We explored the relationship between the androgen receptor (AR), insulin-like growth factor 1 receptor (IGF-1R) and tumour infiltrating lymphocytes (TILs), and clinicopathologic variables and survival in BC. Materials and Methods: In this retrospective study, we collected clinical and pathological data of 105 BC patients who had been treated at Alexandria Main University Hospitals from January 2010 to December 2016. These patients’ formalin fixed paraffin-embedded blocks were retrieved and analyzed for AR and IGF-1R expression immunohistochemically; TILs were assessed by hematoxylin and eosin staining. Chi square and Kaplan Meier curves were used to study the correlation between the three biomarkers and clinicopathologic parameters and survival respectively. Results: 59% and 51.4% of patients were AR and IGF-1R positive respectively. AR immunoreactivity correlated with a tumour size less than 5 centimeters (p=0.001), presence of carcinoma in situ (p=0.008), negative Her 2 status (p=0.007) and negative lymphovascular invasion (p<0.001). Negative AR expression predicted a longer disease free survival (p=0.017). A positive IGF-1R was associated with carcinoma in situ (p<0.001) and negative extra-nodal extension (p=0.042) but no impact on the disease free survival (p=0.227). A high TIL expression was associated with a tumour size less than 5 centimeters (p=0.005), invasive lobular carcinoma (p=0.006), carcinoma in situ (p=0.047), negative LVI (p<0.001) and longer survival. A positive AR expression was associated with a positive IGF-1R expression (p<0.001). Conclusions: AR, IGF-1R and TILs correlate differently with various clinicopathologic variables used in BC; in addition they all have a prognostic value. The two receptors are a promising target in BC. More clinical studies are required to further confirm the utility of these three biomarkers.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"13 1","pages":"26 - 26"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90036095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Results of Genetic Screening of Germinal Mutations in BRCA 1 And BRCA 2 Genes in Patients with Breast Cancer in the Aktobe Region of West Kazakhstan","authors":"M. Aitmagambetova, G. Smagulova, Bekmukhambetov E.Zh., I. Kokhreidze, A. Tulyaeva, G. Bakytzhanov","doi":"10.1177/0300891620914174","DOIUrl":"https://doi.org/10.1177/0300891620914174","url":null,"abstract":"Introduction: Breast cancer (BC) is the most common malignant disease affecting women around the world. Clinically, the most important BC susceptibility genes are BRCA1 and BRCA2. The objective of our study was to establish the frequencies of 8 mutations in the BRCA1 genes (185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T> G (Cys61Gly), 2080delA mutations) and BRCA2 (6174delT mutation) in patients with BC in the Aktobe region of Western Kazakhstan. Materials and research methods: This study involved 300 women with a confirmed diagnosis of BC, who were observed at the Medical Center of the West Kazakhstan Medical University named after Marat Ospanov in the period 2018-2019. Prior to sampling the material (peripheral whole blood), patients received informed consent to conduct the study. Genotyping was carried out by real-time PCR using the Oncogenetics BRCA kit (NPO DNA Technology) according to the manufacturer's instructions. Results: A total of 300 patients were identified 3 cases. Patient No. 1, 31 years old, Asian race (kazakh), a mutation in the BRCA1 5382insC gene was detected, the hereditary history was burdened. Given the patient’s mutation (5382incS), a family history (father died of lung cancer, sibling died of ovarian cancer), work was done on genetic counseling for relatives (mother, brother, sisters and their adult children). Based on the analysis, we revealed a similar mutation of 5382incS in a sibling (42 years old) and his own daughter (17 years old), a second sibling (37 years old). Patient No. 2, 68 years old, Caucasian race, a mutation in the BRCA1 300T> G gene (Cys61Gly) was detected, the hereditary history is not burdened. Patient No. 3, 59 years old, Caucasian race, burdened by heredity. Also, given the patient’s mutation (5382incS), a family history (mother and grandmother died of BC), a study was conducted (daughters). According to the result of the analysis, we revealed a similar mutation of 5382incS in the daughter. Thus, the case presented shows the need for a large-scale, in-depth study of this population for further personification of treatment and prophylactic examination of patient families.","PeriodicalId":23450,"journal":{"name":"Tumori Journal","volume":"177 1","pages":"37 - 37"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77089009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}