scholarly journals Genetic and clinical characterization of BRCA-associated Hereditary Breast and Ovarian Cancer in Navarra (Spain)

2019 ◽  
Author(s):  
Ainara Ruiz de Sabando ◽  
Edurne Urrutia Lafuente ◽  
Fermín García-Amigot ◽  
Ángel Alonso Sánchez ◽  
Lourdes Morales Garofalo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Overall Survival ◽  
Genetic Testing ◽  
Survival Rate ◽  
Clinical Course ◽  
Risk Groups ◽  
Molecular Characteristics ◽  
Overall Survival Rate ◽  
Breast And Ovarian Cancer ◽  
Brca Carriers

Abstract Background Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer. The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community. Methods The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000-2016, and a cohort of BC (n=4384) and OC (n=561) from the population-based Navarra Cancer Registry. Distribution and molecular characteristics of BRCA1/2 mutations, as well as, comparative analysis of the clinical course, pathologic features and overall survival of patients in different risk groups were investigated. Results BRCA mutation detection rate was 16%, with higher proportion (63%) of BRCA2 families. Nineteen per cent of mutations were recurrent, one of which, BRCA2 c.6024dupG, showed high association to OC. BRCA carriers had double risk (95% CI=1.04-4.33) of developing multiple malignancies than low risk families and were diagnosed at a much earlier age (16.6 and 11.7 years difference for BC and OC, respectively) when compared to the general population. For BC, BRCA carriers showed a more advanced histological stage, higher risk of bilateral neoplasms (OR=4.3; 95% CI=1.3-11.4, for BRCA2 carriers) and worse overall survival rate at 5-, 10- and 15- years, than women with sporadic tumors. For OC, over 70% of patients of all risk groups showed advanced stages at diagnosis, with the highest 91% among BRCA1 carriers (91%). Furthermore, they also had higher probability of developing bilateral tumors (OR=7.8, 95%CI=1.7-55.7) than the general population. Five-year overall survival rate was worse among women with sporadic OC than in BRCA carriers, but it levelled out over the 15-year period. Conclusions This study describes the molecular features of BRCA1/2 mutations in Navarra and defines the clinical course and outcomes of BRCA associated tumors compared with those of sporadic origin. Long term assessment of mortality and survival will be required to evaluate the impact of BRCA genetic testing program on the health of target population in our community.

scholarly journals Genetic and clinical characterization of BRCA-associated Hereditary Breast and Ovarian Cancer in Navarra (Spain)

2019 ◽  
Author(s):  
Ainara Ruiz de Sabando ◽  
Edurne Urrutia Lafuente ◽  
Fermín García-Amigot ◽  
Ángel Alonso Sánchez ◽  
Lourdes Morales Garofalo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Overall Survival ◽  
Genetic Testing ◽  
Survival Rate ◽  
Clinical Course ◽  
Risk Groups ◽  
Molecular Characteristics ◽  
Overall Survival Rate ◽  
Breast And Ovarian Cancer ◽  
Brca Carriers

Abstract Background Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer. The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community. Methods The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000-2016, and a cohort of BC (n=4384) and OC (n=561) from the population-based Navarra Cancer Registry. Distribution and molecular characteristics of BRCA1/2 mutations, as well as, comparative analysis of the clinical course, pathologic features and overall survival of patients in different risk groups were investigated. Results BRCA mutation detection rate was 16%, with higher proportion (63%) of BRCA2 families. Nineteen per cent of mutations were recurrent, one of which, BRCA2 c.6024dupG, showed high association to OC. BRCA carriers had double risk (95% CI=1.04-4.33) of developing multiple malignancies than low risk families and were diagnosed at a much earlier age (16.6 and 11.7 years difference for BC and OC, respectively) when compared to the general population. For BC, BRCA carriers showed a more advanced histological stage, higher risk of bilateral neoplasms (OR=4.3; 95% CI=1.3-11.4, for BRCA2 carriers) and worse overall survival rate at 5-, 10- and 15- years, than women with sporadic tumors. For OC, over 70% of patients of all risk groups showed advanced stages at diagnosis, with the highest 91% among BRCA1 carriers (91%). Furthermore, they also had higher probability of developing bilateral tumors (OR=7.8, 95%CI=1.7-55.7) than the general population. Five-year overall survival rate was worse among women with sporadic OC than in BRCA carriers, but it levelled out over the 15-year period. Conclusions This study describes the molecular features of BRCA1/2 mutations in Navarra and defines the clinical course and outcomes of BRCA associated tumors compared with those of sporadic origin. Long term assessment of mortality and survival will be required to evaluate the impact of BRCA genetic testing program on the health of target population in our community.

scholarly journals Genetic and clinical characterization of BRCA-associated Hereditary Breast and Ovarian Cancer in Navarra (Spain)

2019 ◽  
Author(s):  
Ainara Ruiz de Sabando ◽  
Edurne Urrutia Lafuente ◽  
Fermín García-Amigot ◽  
Ángel Alonso Sánchez ◽  
Lourdes Morales Garofalo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Overall Survival ◽  
Genetic Testing ◽  
Survival Rate ◽  
Clinical Course ◽  
Risk Groups ◽  
Molecular Characteristics ◽  
Overall Survival Rate ◽  
Breast And Ovarian Cancer ◽  
Brca Carriers

Abstract Background Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer. The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community. Methods The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000-2016, and a cohort of BC (n=4384) and OC (n=561) from the population-based Navarra Cancer Registry. Distribution and molecular characteristics of BRCA1/2 mutations, as well as, comparative analysis of the clinical course, pathologic features and overall survival of patients in different risk groups were investigated. Results BRCA mutation detection rate was 16%, with higher proportion (63%) of BRCA2 families. Nineteen per cent of mutations were recurrent, one of which, BRCA2 c.6024dupG, showed high association to OC. BRCA carriers had double risk (95% CI=1.04-4.33) of developing multiple malignancies than low risk families and were diagnosed at a much earlier age (16.6 and 11.7 years difference for BC and OC, respectively) when compared to the general population. For BC, BRCA carriers showed a more advanced histological stage, higher risk of bilateral neoplasms (OR=4.3; 95% CI=1.3-11.4, for BRCA2 carriers) and worse overall survival rate at 5-, 10- and 15- years, than women with sporadic tumors. For OC, over 70% of patients of all risk groups showed advanced stages at diagnosis, with the highest 91% among BRCA1 carriers (91%). Furthermore, they also had higher probability of developing bilateral tumors (OR=7.8, 95%CI=1.7-55.7) than the general population. Five-year overall survival rate was worse among women with sporadic OC than in BRCA carriers, but it levelled out over the 15-year period. Conclusions This study describes the molecular features of BRCA1/2 mutations in Navarra and defines the clinical course and outcomes of BRCA associated tumors compared with those of sporadic origin. Long term assessment of mortality and survival will be required to evaluate the impact of BRCA genetic testing program on the health of target population in our community.

scholarly journals Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Ainara Ruiz de Sabando ◽  
Edurne Urrutia Lafuente ◽  
Fermín García-Amigot ◽  
Angel Alonso Sánchez ◽  
Lourdes Morales Garofalo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
General Population ◽  
Risk Groups ◽  
Population Based ◽  
Molecular Characteristics ◽  
Breast And Ovarian Cancer ◽  
High Association ◽  
Pathologic Features ◽  
Advanced Stages

Abstract Background Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer (HBOC). The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community. Methods The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000–2016, and a cohort of BC (n = 4384) and OC (n = 561) from the population-based Navarra Cancer Registry. Distribution and molecular characteristics of BRCA1/2 mutations, as well as, comparative analysis of the clinical course, pathologic features and overall survival (OS) of patients in different risk groups were investigated. Results BRCA mutation detection rate was 16%, with higher proportion (63%) of BRCA2 families. Nineteen per cent of mutations were recurrent, one of which, BRCA2 c.6024dupG, showed high association to OC. BRCA carriers had double risk (95% CI = 1.04–4.33) of developing multiple malignancies than low risk families and were diagnosed at a much earlier age (16.6 and 11.7 years difference for BC and OC, respectively) when compared to the general population. For BC, BRCA carriers showed a more advanced histological stage, higher risk of bilateral neoplasms (OR = 4.3; 95% CI = 1.3–11.4, for BRCA2 carriers) and worse OS rate at 5-, 10- and 15- years, than women with sporadic tumors. For OC, over 70% of patients of all risk groups showed advanced stages at diagnosis, with the highest among BRCA1 carriers (91%). Furthermore, they also had higher probability of developing ovarian bilateral tumors (OR = 7.8, 95% CI = 1.7–55.7, for BRCA1 carriers) than the general population. Five-year OS rate was worse among women with sporadic OC than BRCA carriers, but it levelled out over the 15-year period. Conclusions In addition to national similarities in the HBOC-BRCA1/2 associated mutational spectrum, we identified a recurrent BRCA2 pathogenic variant (c.6024dupG), highly associated to OC in Navarra. Carriers of BRCA1/2 mutations showed a more severe BC and OC phenotype and had a worse overall prognosis when compared to a large cohort of women with sporadic counterpart tumors.

scholarly journals MALIGNANT OVARIAN TUMORS DIAGNOSTICS DIFFICULTIES

2018 ◽  
Vol 14 (2) ◽  
pp. 82-89
Author(s):  
S. O. Nikoghosyan ◽  
A. Z. Zagashtokov ◽  
N. E. Levchenko ◽  
M. M. Thakokhov
Keyword(s):  
Ovarian Cancer ◽  
Overall Survival ◽  
Survival Rate ◽  
Correct Diagnosis ◽  
Stage Iv ◽  
Modern Medicine ◽  
Ovarian Neoplasm ◽  
Overall Survival Rate ◽  
Results Of Treatment ◽  
Key Factor

Despite the undeniable successes of modern medicine, the problems of oncology and, in particular, oncogynecology are still unresolved. Thus, a 5-year overall survival rate for stage I ovarian cancer is 89 %, for stage IV – 17 %. Given that complaints in patients with ovarian cancer appear only after the tumor has passed beyond the organ, the most important and key factor in successful treatment is the correct diagnosis of ovarian neoplasm. Observance of the correct algorithm and correct surgery can significantly improve the results of treatment. The article will discuss the difficulties of diagnosing ovarian cancer.

scholarly journals Development and Validation of Nomograms to Predict Lung Metastases in Patients with Ovarian Cancer: A Large Cohort Study

2020 ◽  
Author(s):  
Yufei Yuan ◽  
Fanfan Guo ◽  
Ruoran Wang ◽  
Yidan Zhang ◽  
GuiQin Bai
Keyword(s):  
Ovarian Cancer ◽  
Overall Survival ◽  
Survival Rate ◽  
Cancer Patients ◽  
Lung Metastasis ◽  
Cox Regression ◽  
Validation Cohort ◽  
Lung Metastases ◽  
Overall Survival Rate ◽  
Newly Diagnosed

Abstract Background Lung metastasis, an independent risk factor affecting the prognosis of patients with ovarian cancer, is associated with poor survival. We tried to develop and validate a nomogram to predict the risk of lung metastases in newly diagnosed patients with ovarian cancer.Methods Patients diagnosed with ovarian cancer from the surveillance, epidemiology and final results (SEER) database between 2010 and 2015 were retrospectively collected. The model nomogram was built based on logistic regression. The consistency index (C-index) was used to evaluate the discernment of the lung metastasis nomogram. Calibration plots was drawn to analyze the consistency between the observed probability and predicted probability of lung metastases in patients with ovarian cancer. The Kaplan-Meier method was used to estimate the overall survival rate, and the influencing factors were included in the multivariate Cox regression (P<0.05) to analyze the independent prognostic factors of lung metastases.Results A total of 16,059 eligible patients were randomly divided into training (n = 11242) and validation cohort (n = 4817). AJCC T, N stage, bone metastases, brain metastases and liver metastases were evaluated as predictors of lung metastases. Finally, a nomogram was constructed. The nomogram based on independent predictors was well calibrated and showed good discriminative ability. The C index is 0.761 (0.736-0.787) for the training cohort and 0.757（0.718-0.795）for the validation cohort. The overall survival rate of ovarian cancer patients with lung metastases was reduced. Mixed histological types, chemotherapy and primary site surgery were factors that affect the overall survival of ovarian cancer patients with lung metastases.Conclusion: The clinical prediction model had high accuracy and can be used to predict the lung metastasis risk of newly diagnosed patients with ovarian cancer, which can guide the treatment of patients with lung metastases.

scholarly journals Circular RNA S-7 promotes ovarian cancer EMT via sponging miR-641 to up-regulate ZEB1 and MDM2

2020 ◽  
Vol 40 (7) ◽  
Author(s):  
Fenghua Zhang ◽  
Yun Xu ◽  
Wenfeng Ye ◽  
Jingting Jiang ◽  
Changping Wu
Keyword(s):  
Ovarian Cancer ◽  
Overall Survival ◽  
Lymph Node ◽  
Survival Rate ◽  
Cell Growth ◽  
Lymph Node Metastasis ◽  
Pearson Correlation ◽  
Gynecologic Cancer ◽  
Overall Survival Rate ◽  
Node Metastasis

Abstract Background: Ovarian cancer (OC) is one lethal gynecologic cancer, with a 5-year survival rate approximately 47% and localized stage diagnosis of 15%. Circular RNAs are promising biomarkers for malignancies. Methods: CiRS-7 expression was confirmed in 40 paired OC and normal adjacent tissues from 40 OC patients with different TNM stages, lymph node metastasis status and overall survival rate, also 5 different OC cell lines by qRT-PCR. Effects of ciRS-7 silence on OC cell phenotypes were determined in OC cells and Xenograft mouse model. StarBase was used to predict binding sites between ciRS-7 and micRNAs. Pearson correlation analysis and RNA-immunoprecipitation assay were used to determine the association between genes. Point mutation and rescue experiments were applied for molecular mechanism investigation. Results: CiRS-7 expression was significantly higher in OC cells and tissues, which was significantly associated with the TNM stages, lymph node metastasis status and overall survival rate in OC patients. CiRS-7 silence inhibited OC cell growth and metastasis. CiRS-7 sponged miR-641 to up-regulate ZEB1 and MDM2 expression in OC development. Conclusion: CiRS-7 serves as a competing endogenous RNA of miR-641 that promoted cell growth and metastasis in OC, via regulating ZEB1 and MDM2-mediated EMT. High ciRS-7 expression was a poor prognosis of TNM stages, lymph node metastasis status and overall survival rate in OC patients. Targeting ciRS-7/miR-641/ZEB1 or ciRS-7/miR-641/MDM2 axis may be a novel diagnostic, prognostic and therapeutic strategy for OC.

scholarly journals Carbon Ion Radiotherapy for Oligo-Recurrence in the Lung

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Naoyoshi Yamamoto ◽  
Mio Nakajima ◽  
Hirohiko Tsujii ◽  
Tadashi Kamada
Keyword(s):  
Colorectal Cancer ◽  
Lung Cancer ◽  
Overall Survival ◽  
Survival Rate ◽  
Local Control ◽  
Local Control Rate ◽  
Carbon Ion Radiotherapy ◽  
Overall Survival Rate ◽  
Carbon Ion ◽  
Metastatic Lung

The clinical results after carbon ion radiotherapy for the metastatic lung tumors believed to be in the state of oligo-recurrence were evaluated. One hundred and sixteen lesions in 91 patients with lung cancer metastasis were treated with carbon ion radiotherapy at our institute from April 1997 to February 2011. Regarding the prescribed dose, total dose ranged between 40 gray equivalents (GyE) and 80 GyE, and fraction size ranged from 1 to 16 fractions. After a median followup period of 2.3 years (range, 0.3–13.1 years), the statistical overall survival rate and local control rate were 71.2% and 91.9% at 2 years after treatment, respectively. Treatment-related side effects were not a clinical problem. When classified by the primary organ, there were 49 cases of lung cancer, 20 cases of colorectal cancer, and 22 cases of others. The overall survival rate and local control rate for lung metastasis cases from lung cancer at 2 years after treatment were 81.5% and 92.4%, respectively, and 65.0% and 92.0% regarding lung metastasis from colorectal cancer. Carbon ion beam therapy for the metastatic lung tumors is a safe therapy, and the therapeutic effect is comparable to the outcome obtained from reported surgical resections.

PREDICTORS OF OVERALL SURVIVAL IN MEN WITH CHRONIC LYMPHOCYTIC LEUKEMIA

2021 ◽  
pp. 50-56
Author(s):  
M.V. Markovtseva ◽  
E.N. Zgural'skaya
Keyword(s):  
Overall Survival ◽  
Glomerular Filtration Rate ◽  
Survival Rate ◽  
Glomerular Filtration ◽  
Median Survival ◽  
Filtration Rate ◽  
Lymphocytic Leukemia ◽  
Overall Survival Rate ◽  
Patient Will ◽  
Actual Survival

The generally accepted staging for chronic lymphocytic leukemia (CLL) suggested by K. Rai and J. Binet allows calculating the median survival depending on the size of the tumor mass. However, in real clinical practice, the overall survival rate may differ significantly from the calculated median. Thus, the search for parameters affecting the overall survival rate of CLL patients is really relevant. The aim of the study was to assess general clinical parameters as predictors of survival in CLL patients. Materials and Methods. The authors examined 60 CLL men (stages A–C according to Binet) with known overall survival rate. Data mining was used to identify significant factors affecting the overall survival in such patients. Patients were divided into two non-overlapping classes: K1 (actual survival was less than the predicted median survival) and K2 (actual survival was more or equal to the predicted median survival). Results. The most significant differences between the classes were obtained for glomerular filtration rate. If the parameter value is more than 76.5 ml/min/1.73 m2, we can say that the patient will overcome the median survival for the corresponding CLL stage according to Binet. Otherwise, the overall survival of a CLL patient will be less than the estimated one. Conclusion. If during diagnosing glomerular filtration rate of a CLL patient is more than 76.5 ml/min/1.73 m2, it can be considered as a predictor of overcoming the median survival according to Binet. The results of the studies obtained are patented. Patent RU 2725877 C1, July 7, 2020. Keywords: overall survival in CLL patients, men, glomerular filtration rate, data mining. Общепризнанные системы стадирования хронического лимфолейкоза (ХЛЛ) К. Rai и J. Binet позволяют рассчитать медиану выживаемости пациента в зависимости от величины опухолевой массы. Однако в реальной клинической практике параметр общей выживаемости пациента может значимо отличаться от расчетной медианы. Ввиду этого поиск параметров, влияющих на показатель общей выживаемости пациентов с ХЛЛ, представляет особую актуальность. Цель исследования – оценить возможность использования общеклинических параметров в качестве предикторов выживаемости больных ХЛЛ. Материалы и методы. Ретроспективно проанализированы данные 60 мужчин с ХЛЛ стадии A–C по Binet c известной общей выживаемостью. Для выявления значимых факторов, влияющих на общую выживаемость пациентов, использовали метод интеллектуального анализа данных. Пациенты были разделены на два непересекающихся класса: K1 (фактическая выживаемость меньше прогнозируемой медианы выживаемости) и K2 (фактическая выживаемость больше или равна прогнозируемой медиане выживаемости). Результаты. Наиболее значимые различия между классами были получены по показателю скорости клубочковой фильтрации. При значении параметра более 76,5 мл/мин/1,73 м2 можно говорить о том, что пациент преодолеет расчетные данные медианы выживаемости для соответствующей стадии ХЛЛ по Binet. В противном случае общая выживаемость пациента ХЛЛ будет меньше расчетной. Выводы. Наличие у пациента с ХЛЛ на момент постановки диагноза скорости клубочковой фильтрации более 76,5 мл/мин/1,73 м2 можно рассматривать в качестве предиктора преодоления расчетного параметра медианы выживаемости по Binet. Результаты полученных исследований запатентованы. Патент RU 2725877 C1 от 7.07.2020. Ключевые слова: общая выживаемость при ХЛЛ, мужчины, скорость клубочковой фильтрации, интеллектуальный анализ данных.

Sign in / Sign up

Export Citation Format

Share Document