scholarly journals P11.03: Ultrasound features of ovarian carcinoma in patients with BRCA 1 or BRCA 2 mutation

2017 ◽  
Vol 50 ◽  
pp. 187-188
Author(s):  
S. Giunchi ◽  
G. Vittori Antisari ◽  
G.M. Borghese ◽  
M. Tesei ◽  
A. Perrone ◽  
...  
Keyword(s):  
Ovarian Carcinoma ◽  
Brca 1 ◽  
Brca 2 ◽  
Ultrasound Features

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.

Die aktuellen Leitlinien für Autologe Fettgewebstransplantationen der Deutschen Gesellschaft der Plastischen, Rekonstruktiven und Ästhetischen Chirurgen (DGPRÄC) und der Fat Graft Task Force der American Society of Plastic Surgeons (ASPS) – ein transatlantischer Vergleich

2017 ◽  
Vol 49 (06) ◽  
pp. 408-414
Author(s):  
G. Felix Broelsch ◽  
Sören Könneker ◽  
Ramin Ipaktchi ◽  
Peter M. Vogt
Keyword(s):  
Task Force ◽  
Deutsche Gesellschaft ◽  
Fat Graft ◽  
Prospektive Studien ◽  
Brca 1 ◽  
Brca 2 ◽  
American Society

Zusammenfassung Problemstellung Die zunehmende Verwendung von autologen Fetttransplantationen veranlasste 2009 die American Society of Plastic Surgeons eine Fat Graft Task Force (AFGT) zu etablieren und in 2015 die Deutsche Gesellschaft der Plastischen, Rekonstruktiven und Ästhetischen Chirurgen (DGPRÄC) gemeinsam mit drei weiteren Fachgesellschaften (DDG, DGMKG, DGGG) an Hand der bislang publizierten Ergebnissen Behandlungsleitlinien zu erstellen. Die vorliegende Arbeit will die beiden Leitlinien hinsichtlich Ihres Anliegens, einer sicheren Durchführung von autologer Fetttransplantation, vergleichen. Methoden Die AFGT stützt ihre Empfehlungen ausschließlich auf Parameter der evidenzbasierten Medizin. Die DGPRÄC bewertet unter Berücksichtigung der aktuellen Literatur im Rahmen eines vierstufigen Expertenkonsenses das Vorgehen nach allgemeinen Anforderungen der Operativen Medizin und gesetzlichen Vorgaben. Ergebnisse Beide Gesellschaften stimmen in Indikation und technischen Vorgehen weitestgehend überein: Fetttransplantationen sind indiziert zum Brustaufbau, zur Rekonstruktion von Gewebsdefiziten oder Deformitäten. Beide weisen auf die Risikogruppe bestimmter Brusttumoren (BRCA-1, BRCA-2) bzw. familiäre Prädispositionen hin. In fast allen Anwendungsbereichen sind Ergebnisse abhängig von der verwendeten Applikationstechnik und den Erfahrungen eines Operateurs. Randomisierte, prospektive Studien für bestimmte Verfahren fehlen. Aufgrund der Einzelberichte und Expertenmeinungen liegt zwar nur eine Evidenz-Stufe von IV–V nach Einschätzung der AFGT vor. Demgegenüber vermittelt die DGPRÄC detailliertere Vorgehensverfahren und erreicht durch das Experten-Konsensusverfahren eine deutlich stärkere Aussagefähigkeit als die Leitlinie der AFGT. Zusammenfassung Beide Expertengremien empfehlen die Durchführung autologer Fetttransplantationen bei entsprechenden Indikationen und weisen darauf hin, dass es keine Standardverfahren für ein bestimmtes Vorgehen gibt. Die publizierten Leitlinien sollen Hinweise geben auf die richtige Patientenselektion, eine optimale Technik, mögliche Komplikationen und realistische Erfolgsaussichten. Die DGPRÄC empfiehlt die Einhaltung der von ihr gegebenen praktischen Einzelrichtlinien einschließlich der gesetzlichen Vorgaben, um die Patientensicherheit zu gewährleisten und ist damit in der Praxis richtungsweisender und verbindlicher. Die AFGT rät dringend zur erweiterten Grundlagenforschung und zur Durchführung randomisierter, prospektiver Studien.

BRCA-1 and BRCA-2 mutations as prognostic factors in clinical practice and genetic counselling

2001 ◽  
Vol 27 (5) ◽  
pp. 295-304 ◽  
Author(s):  
M.O. Nicoletto ◽  
M. Donach ◽  
A. De Nicolo ◽  
G. Artioli ◽  
G. Banna ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Clinical Practice ◽  
Genetic Counselling ◽  
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.

scholarly journals Efficacy of Risk-Reducing Salpingo-Oophorectomy in Women with BRCA-1 and BRCA-2 Mutations

2004 ◽  
Vol 10 (s1) ◽  
pp. S5-S9 ◽  
Author(s):  
Olufunmilayo I. Olopade ◽  
Grazia Artioli
Keyword(s):  
Brca 1 ◽  
Brca 2 ◽  
Risk Reducing

scholarly journals Genética do câncer de mama hereditário

2007 ◽  
Vol 6 (1) ◽  
Author(s):  
Cleidemar Moura Marafon
Keyword(s):  
Cáncer De Mama ◽  
Brca 1 ◽  
Brca 2 ◽  
Ciclo Celular

O câncer de mama é uma das neoplasias que apresentam crescente ocorrência nos países industrializados e também em países em desenvolvimento, como o Brasil. Estudos clínicos, epidemiológicos e genéticos têm identificado características biológicas e sociais como fatores de risco associados a essa neoplasia. Entre as principais causas da doença está a história familiar, idade, condição socioeconômica, radiação ionizante, e vários outros fatores metabólicos e hormonais, e, mais recentemente, os genes de suscetibilidade denominados BRCA. Esses genes, considerados supressores tumorais, codificam proteínas nucleares que estão relacionadas com várias funções no ciclo celular, e a sua inativação pode conduzir a instabilidade genômica, defeitos no reparo da dupla fita do DNA e, conseqüentemente, favorecer mutações adicionais em outros genes que estão envolvidos com o processo de multiplicação e diferenciação celular. O presente artigo faz uma revisão dos genes de suscetibilidade do câncer de mama BRCA-1 e BRCA-2, fundamentais no entendimento da predisposição genética dessa patologia.

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