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

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.

A framework for prognosis research

2019 ◽  
pp. 22-34
Author(s):  
Peter Croft ◽  
Richard D Riley ◽  
Karel GM Moons ◽  
Harry Hemingway
Keyword(s):  
Prognostic Factors ◽  
Clinical Practice ◽  
Treatment Effect ◽  
Statistical Models ◽  
Impact Evaluation ◽  
Health Condition ◽  
Prognostic Models ◽  
Prognosis Research

This chapter introduces the PROGRESS framework, which describes four types of prognosis research, each addressing different questions. The four types concern: studies of overall prognosis (the average outcome, or outcome risk, in people with a particular health condition, in the context of the nature and quality of current care); prognostic factors (characteristics associated with changes in the average outcome, or outcome risk, across individuals); prognostic models (development, validation, and impact evaluation of statistical models, incorporating multiple prognostic factors for use in clinical practice to predict an individual’s outcome value or to estimate their outcome risk); and predictors of treatment effect (characteristics that predict whether an individual responds to a particular treatment or not). Examples of each type are given to illustrate the framework.

Genetics of cardiomyopathies: cardiac manifestations of genetic mitochondrial diseases

ESC CardioMed ◽  
2018 ◽  
pp. 705-710
Author(s):  
Abdallah Fayssoil
Keyword(s):  
Prognostic Factors ◽  
Clinical Features ◽  
Respiratory Chain ◽  
Genetic Counselling ◽  
Genetic Disorders ◽  
Mitochondrial Diseases ◽  
Mitochondrial Disorders ◽  
First Case ◽  
Life Threatening ◽  
Cardiac Manifestations

Mitochondrial disorders are multisystemic and heterogeneous diseases. Their clinical phenotype is a consequence of a defect in the respiratory chain due to genetic disorders. The first case was reported by Luft and colleagues in 1960. Today, the prevalence of mitochondrial diseases is estimated to be 1:5000. Symptoms may appear at any age and the disease may affect any organ. The heart can be involved in different ways from cardiomyopathy to life-threatening arrhythmia. The management is based on a multidisciplinary approach with genetic counselling being fundamental. This chapter reviews the mitochondrial physiology, the clinical features, and diagnosis of mitochondrial disorders, with a particular focus on cardiac involvement, its management, and prognostic factors.

scholarly journals Implications of conflicting definitions of probability to health risk communication: a case study of familial cancer and genetic counselling

2007 ◽  
Vol 31 (1) ◽  
pp. 24 ◽  
Author(s):  
Kieran C O'Doherty
Keyword(s):  
Clinical Practice ◽  
Health Risk ◽  
Risk Communication ◽  
Genetic Counselling ◽  
Health Professionals ◽  
Health Research ◽  
Familial Cancer ◽  
Health Sciences ◽  
Research And Practice

The question of what probability actually is has long been debated in philosophy and statistics. Although the concept of probability is fundamental to many applications in the health sciences, these debates are generally not well known to health professionals. This paper begins with an outline of some of the different interpretations of probability. Examples are provided of how each interpretation manifests in clinical practice. The discipline of genetic counselling (familial cancer) is used to ground the discussion. In the second part of the paper, some of the implications that different interpretations of probability may have in practice are examined. The main purpose of the paper is to draw attention to the fact that there is much contention as to the nature of the concept of probability. In practice, this creates the potential for ambiguity and confusion. This paper constitutes a call for deeper engagement with the ways in which probability and risk are understood in health research and practice.

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.

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