scholarly journals 1139 Ovarian cancer in brca 1 and brca 2 mutations carriers, clinicopathologycal features

2021 ◽  
Author(s):  
A Laura ◽  
MDLR Oliver ◽  
E Felipe Pardo ◽  
J Montero Olmeda ◽  
A Sofia ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca 1 ◽  
Brca 2

Cost-effectiveness of surveillance and prevention strategies in BRCA 1/2 mutation carriers.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13051-e13051
Author(s):  
Hideko Yamauchi ◽  
Chizuko Nakagawa ◽  
Makoto Kobayashi ◽  
Yusuke Kobayashi ◽  
Toshiki Mano ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cost Effectiveness ◽  
Cost Effective ◽  
Breast And Ovarian Cancer ◽  
Quality Adjustment ◽  
Mutation Carriers ◽  
Brca 1 ◽  
Brca 2 ◽  
Preference Ratings ◽  
Risk Reducing

e13051 Background: Cost-effectiveness analysis is important in healthcare, especially in Japan, where preventive measures for carriers of BRCA 1/2 mutations are not covered by health insurance. Methods: We developed Markov models in a simulated cohort of women aged 35–70, and compared outcomes of surveillance with risk-reducing mastectomy at age 35 (RRM), risk-reducing salpingo-oophorectomy at age 45 (RRSO), and both (RRM&RRSO), with quality adjustment. We used breast and ovarian cancer incidence, and adverse event rates from previous studies, adjuvant chemotherapy and hormonal therapy rates from Hereditary Breast and Ovarian Cancer Registration 2015, mortality rates from the National Cancer Center Hospital, Japan Society of Clinical Oncology and Ministry of Health, Labour and Welfare, and direct costs in 2016 Japanese yen from St. Luke’s International Hospital and Keio University Hospital. We used preference ratings for both of mutation carriers and controls (without known high risk) from a published study to adjust survival for quality of life (QALYs). Discount rate was 2%. Results: Compared with surveillance, RRSO and RRM & RRSO were dominant (cost-saving and more effective) and RRM was cost effective for BRCA 1 mutation carriers. RRM and RRM & RRSO were dominant, and RRSO was cost effective for BRCA 2 mutation carriers. Among four strategies including surveillance, RRM & RRSO was the most cost effective for BRCA 1 mutation carriers and RRM was the most cost effective for BRCA 2 mutation carriers based on preference ratings of controls. Conclusions: With quality adjustment, all the preventive strategies (RRM, RRSO and RRM&RRSO) were cost effective for BRCA 1 and 2. Using QALYs from the control group, RRM & RRSO for BRCA 1 and RRM for BRCA 2 were the most cost effective. We will use this result to promote insurance coverage for BRCA mutations carriers in Japan.

BRCA 1/2 mutations in high-grade serous ovarian cancer (HGS-OC) patients of three Latin American countries: Report of 412 cases.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e14288-e14288
Author(s):  
Juan Molina ◽  
Omar Orlando Castillo Fernandez ◽  
Maria Lim ◽  
Luis Mas ◽  
Ignacio Fernando Veliz ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Costa Rica ◽  
Latin American ◽  
Positive Family History ◽  
Germline Mutations ◽  
High Grade ◽  
Serous Ovarian Cancer ◽  
Brca 1 ◽  
Brca 2 ◽  
Latin American Countries

e14288 Background: Ovarian Cancer (OC) is the most common gynecologic cancer in women in the World and with elevated mortality. High Grade Serous Ovarian Cancer (HGS-OC) is a common histotype and closely related with the presence of BCRA abnormalities. This is to our knowledge the first report of a large series of patients with HGS-OC evaluated in Latin-American countries. The study aim was to present the data obtained from Perú, Costa Rica and Panamá from January 2016 to December 2018. Methods: A cross-sectional evaluation was performed in patients diagnosed between 2016 and 2018 with HGS-OC in three countries in Latin America. The patients were selected from Cancer National Reference Centers in Perú, Panamá and Costa Rica. Germline BRCA 1 / 2 mutations were evaluated through Next Generation Sequencing (NGS) in blood samples. Results: During the period 412 HGS-OC were studied. The mean age at diagnosis was 56.55(SD:12.21) years for all the evaluated patients and 55.42(SD:8.60) years in the mutated cases. Pathogenic HGS-OC mutations in germline BRCA 1 / 2 were diagnosed in 72 cases. Germline BRCA 2 mutations were the most frequent abnormality detected in Panama and in Costa Rica with 70.0 %(7/10) and 77.8%(14/18), respectively. However in Perú, germline mutations in BRCA 1 represents the majority of the mutations with 79.3%(35/44). Variants of uncertain significance (VUS) were detected in 3.64 %(15/412). Positive family history for breast or ovarian cancer were detected in 13.8% of patients with pathogenic mutations(10/72). Specific mutation distribution evidenced in Perú that 6 of 44(13.6%) mutated patients had the mutation in BRCA 1 c.2105dupT; 6 patients of 18(33.3%) had the mutation in BRCA 2 c.5303_5304delTT in Costa Rica and 2 cases had the mutation in BRCA1 c.5186C > A in Panama. The rest of mutations were less common. Conclusions: The frequency of Germline mutations BRCA 1 and BRCA 2 in patients with HSG-OC is similar to the reported in developed nations. However, the different mutation profile between the studied countries could be explained by the Latin-American genetic diversity. Most of the mutations we report were not described in previous studies evaluating breast cancer susceptibility.

Genetic testing for hereditary breast and ovarian cancer in Indian population: A single institutional study.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13153-e13153
Author(s):  
Veda Padma Priya Selvakumar ◽  
Shubha Garg ◽  
Jatinder Kaur ◽  
Geeta Kadayaprath ◽  
Nitesh Rohatgi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Indian Population ◽  
Pathogenic Mutation ◽  
Second Primary ◽  
Cancer Syndrome ◽  
Hereditary Breast Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Brca 1 ◽  
Brca 2

e13153 Background: Women with Hereditary breast ovarian cancer have an increased lifetime risk of developing breast, ovarian and other second primary cancers . A number of genes including BRCA 1 & 2 have been implicated in Hereditary Breast Ovarian Cancer. In this background we sought to analyze the genetic pattern of patients who underwent genetic testing as per the NCCN criteria for hereditary breast ovarian cancer syndrome. Methods: All consecutive patients who fit into the NCCN criteria for genetic testing for Hereditary Breast Ovarian Cancer from 2016 to 2018 were referred to our genetic clinic. The data of all the patients who underwent further genetic testing after counselling were collected and analyzed. Results: Out of 155 patients who underwent genetic testing ,131 patients were found eligible for the study.127 were female and 4 were male. There were 27 pathogenic mutations identified while 32 were variants of unknown significance . The remaining 72 were negative for any of the known mutations. 22 were pathogenic for BRCA 1 Mutation , two pathogenic for BRCA 2 and one for TP53 ,PALB2 and ATM each. Out of the 32 VUS, 9 were BRCA 2, 4 in CDH 1, 2 in BRCA1, CHEK2 ,MSH2 and BRIP1 and one each in MLH1, MLH3, ATM, APC, RAD51D, XRCC3, NBN, TP53.Three patients had double VUS reported. BRCA 1 is the most common pathogenic mutation ( 16.79% ) found while BRCA 2 is the most common VUS reported ( 28 %). Conclusions: 20.6 % of eligible patients had pathogenic mutations which is much higher than the western literature. However the VUS rates in Indian population are high 22% owing to a paucity of genetic data of Indian population. Multigene testing helps in identifying other genes asscociated with the Hereditary breast ovarian cancer criteria in addition to BRCA 1 & 2.

Effect of BRCA mutation on prognosis in patients with ovarian cancer: A systematic review and meta-analysis.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 5066-5066
Author(s):  
Antonis Valachis ◽  
Nikolaos P. Polyzos ◽  
Apostolos Zavos ◽  
Davide Mauri ◽  
Pehr A. Lind
Keyword(s):  
Ovarian Cancer ◽  
Survival Benefit ◽  
Germ Line ◽  
Brca Mutation ◽  
Case Control ◽  
Control Group ◽  
P Value ◽  
Differential Survival ◽  
Brca 1 ◽  
Brca 2

5066 Background: To investigate whether the germ-line mutations of BRCA 1 and 2 in patients with ovarian cancer are associated with disease outcome. Methods: A systematic search of the literature was performed using search terms related to BRCA, ovarian cancer and prognosis. Studies were considered eligible if they reported the outcome of ovarian cancer in patients with BRCA 1 and/or 2 mutations compared with patients with sporadic ovarian cancer or / and no BRCA mutation. Cohort and case-control designs were included. Pooled Hazard Ratios (HR) were estimated with fixed or random effects models, depending on between-studies heterogeneity. Results: Of 2,340 titles identified, 26 articles met the inclusion criteria. Of these, 6 studies were excluded from the analysis due to duplication of results (n=1) and lack of data to calculate HR (n=5). Patients with BRCA 1 or 2 mutations had better survival compared with control group both in cohort (HR: 0.58, 95% Confidence Interval (CI) 0.42-0.79, p-value 0.0005) and in case-control (HR: 0.65, 95% CI 0.45-0.93, p-value = 0.02) studies. When only patients with BRCA 1 mutation were analyzed, the survival benefit remained significant (HR: 0.67, 95% CI 0.53-0.85, p-value = 0.001). Furthermore, the differential survival benefit of the mutation groups was even more evident among patients with BRCA 2 mutation (HR: 0.43, 95% CI: 0.30-0.63, p-value < 0.0001). A direct comparison of patients with BRCA 1 vs. BRCA 2 mutations (4 studies) revealed a significantly better survival for BRCA 2 mutation carriers (HR: 0.53, 95% CI: 0.33-0.85, p-value = 0.009). Conclusions: Our results confirm the hypothesis that BRCA status is a prognostic factor in patients with ovarian cancer. Based on these results, the use of BRCA status as a stratifying factor in therapeutic ovarian cancer trials seems to be fully justifiable. The stronger association between survival and BRCA 2 mutation, compared with BRCA 1, suggests a different nature of the dysfunction of these 2 genes.

Incidence and Characteristics of Unsuspected Neoplasia Discovered in High-Risk Women Undergoing Risk Reductive Bilateral Salpingooophorectomy

2016 ◽  
Vol 26 (8) ◽  
pp. 1415-1420 ◽  
Author(s):  
Carolin Poon ◽  
Simon Hyde ◽  
Peter Grant ◽  
Marsali Newman ◽  
Kerryn Ireland Jenkin
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Germline Mutation ◽  
Retrospective Review ◽  
Australian Population ◽  
Brca 1 ◽  
Brca 2 ◽  
Risk Reducing ◽  
Disease Free

ObjectiveRisk reducing salpingooophorectomy is recommended to women with a BReast CAncer susceptibility gene (BRCA) 1 or 2 germline mutation to reduce the risk of ovarian cancer. The incidence of unsuspected neoplasia varies in the literature. The purpose of this study was to identify the rate of unsuspected neoplasia in a high-risk Australian population, discuss their management, and assess the clinical outcome.MethodThis is a retrospective review of all women undergoing risk reductive salpingooophorectomy between January 2006 and December 2014. The medical, operative, and pathology results were reviewed. The specimens were assessed using the Sectioning and Extensively Examining the Fimbriated End protocol to the fallopian tube, and the ovary was also examined using 2 to 3 mm sectioning.ResultsDuring the study period, 138 patients underwent risk-reducing salpingooophorectomy for a known BRCA 1 or 2 germline mutation or a high-risk personal or family history of ovarian cancer. Five patients with neoplasia were identified, 2 with invasive tubal carcinoma and 3 with serous tubal intraepithelial carcinoma (STIC), giving an overall incidence of 3.62%. Invasive tubal carcinoma occurred in 1 woman with a BRCA 1 mutation and 1 woman with a BRCA 2 mutation. The incidence of carcinoma in women with either a BRCA 1 or 2 germline mutation was subsequently 2.78%. STIC occurred in 2 women with a BRCA 1 germline mutation and 1 woman carrying a BRCA 2 germline mutation. The incidence of STIC in women with either a BRCA 1 or 2 germline mutation was subsequently 4.17%. Of the patients with STIC, all 3 remain disease free at an average follow-up period of 79.33 months.ConclusionsIn this retrospective review, we found the incidence of neoplasia within a high-risk Australian population undergoing risk-reducing bilateral salpingo-oophorectomy to be 3.62%. The incidence of STIC was 2.17%. During our follow-up period, all patients with STIC remained disease free.

scholarly journals Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers

2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Claudia Marchetti ◽  
Francesca De Felice ◽  
Innocenza Palaia ◽  
Giorgia Perniola ◽  
Angela Musella ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Ovarian Cancer Risk ◽  
Mutation Carriers ◽  
All Cause Mortality ◽  
Brca 1 ◽  
Brca 2 ◽  
Risk Reducing

Prospektiver Vergleich der Ergebnisse der somatischen und Keimbahn-Testung im BRCA 1 und BRCA 2 Gen von Ovarialkarzinompatientinnen

2018 ◽  
Author(s):  
V Schneider ◽  
E Petru ◽  
C Bracco ◽  
J Geigl ◽  
E Heitzer ◽  
...  
Keyword(s):  
Brca 1 ◽  
Brca 2

Germinal mutations landscape, which is responsible for cancer predisposition in multinational Republic of Bashkortostan.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e22504-e22504
Author(s):  
Alexnder Valerievich Sultanbaev ◽  
Oleg Lipatov ◽  
Nadezda Sultanbaeva ◽  
Adel Izmailov ◽  
Ainur Nasretdinov ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Young Age ◽  
Cancer Predisposition ◽  
Malignant Neoplasms ◽  
Healthy Population ◽  
Republic Of Bashkortostan ◽  
Sequencing Method ◽  
Brca 1 ◽  
Brca 2 ◽  
Early Diagnose

e22504 Background: In oncology hereditary forms of malignant neoplasms occupy a special position due to the frequent cases at a young age and poor prognostic factors. The aim of this work is to determine in cancer patients germinal mutations which are responsible for cancer predisposition. Methods: The study included patients with burdened family history or those with a manifestation of malignant neoplasm at a young age residing on the territory of multinational Republic of Bashkortostan. The patients were diagnosed with one of these diseases: breast cancer, prostate cancer, pancreatic cancer, gastric cancer, colon cancer. The study is based on analyses of the molecular genetic blood testing n cancer patients using real-time polymerase chain reaction (PCR) for detection of 8 widely spread mutations among Russian population: in BRCA 1 gene were detected such mutations as 185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T>G, 2080delA; in gene BRCA 2 - 6174delT. Blood samples of the rest amount of patients which proved no mutations by PCR method was tested by the “next-generation” sequencing method (NGS). Results: The results of the study showed territorial features of presence of germinal mutations of Russian multinational region. The results of the study aimed to reveal the spectrum and frequency of gene mutations characteristic for the particular region: BRCA 1 - c.5266dupC, c.3143delG, c.5161C>T, c.5382 insC, c.3819delGTAAA, c.300T>G, c.5136G>A, 185delAG, 4153delA, 2080delA; BRCA 2 - c.6621_6622del, с.39-1_39delGA, c.961_962insAA; CHEK2 - c.470T>C, c.444+1G>A; PALB2 - c.1592delT; RAD50 - c.2157delA; MLH1 - c.1637A>G; MSH6 - c.2554_2556del; STK11 - c.368A>G; MSH2 - c.815C>T. According to the mutation detection the patient consulted a geneticist for making a genealogic tree for future molecular genetics exam. Hereinafter the control group included relatives of patients who remain potential carriers of pathogenic mutations of the proband using Sanger sequencing method. When penetrate mutations are identified in healthy population, a set of measures is taken to prevent and early diagnose malignant tumors. Conclusions: The results of the study showed features of presence of each detected mutation which is characteristic for south-eastern part of the Russian multinational region. This study plays an important role in the process of optimization of screening of germinal mutation carriers among healthy population and as a result it helps to conduct prophylactic measures to early diagnose malignant neoplasms.

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