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‣ Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing

Cruz, Juliana B.; Fernandes, Leonardo P.S.; Clara, Sueli A.; Conde, Sandro J.; Perone, Denise; Kopp, Peter; Nogueira, Célia R.
Fonte: Sociedade Brasileira de Endocrinologia e Metabologia Publicador: Sociedade Brasileira de Endocrinologia e Metabologia
Tipo: Artigo de Revista Científica Formato: 1463-1467
Português
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Dois pacientes índices da família analisada neste estudo foram submetidos a adrenalectomia bilateral devido a feocromocitoma. Foi, então, realizado o estudo genético dos pacientes e de sete parentes de primeiro grau. Os dois pacientes com feocromocitoma e dois outros membros assintomáticos da família apresentaram a mutação c496G>T no exon 3 do gene VHL. A família perdeu seguimento médico. Três anos após a realização da avaliação genética, a irmã dos pacientes, portadora da mutação, foi encaminhada para o nosso serviço após uma gestação complicada por pré-eclampsia. Ela referia paroxismos sugestivos de feocromocitoma, mas as metanefrinas urinárias eram negativas. Entretanto, a tomografia computadorizada de abdômen evidenciou uma massa adrenal que também se contrastou na cintilografia com metaiodobenzilguanidina (MIBG). Esse estudo mostra que a análise molecular do paciente índice pode levar à identificação de parentes assintomáticos portadores da mutação. Além disso, mesmo com as metanefrinas urinárias negativas, a identificação de uma mutação específica levou a um aumento da suspeita e detecção de feocromocitoma na irmã dos afetados pela doença.; The two index patients of the family analyzed in this study had undergone bilateral adrenalectomy for pheochromocytomas. This prompted genetic analyses of the probands and seven first-degree relatives. The two pheochromocytoma patients and two additional asymptomatic family members were found to harbor a mutation c496G>T in exon 3 of the VHL gene. The family was then lost to systematic follow-up. Three years after performing the initial genetic evaluation...

‣ Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice

Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima; Guimarães, Laura; Januário, Cristina; Gaspar, Isabel; Loureiro, Leal; Vale, José; Garrett, Carolina; Regateiro, Fernando; Magalhães, Marina; Sousa, Alda; Maciel, P.; Sequeiros, Jorge
Fonte: Universidade do Minho Publicador: Universidade do Minho
Tipo: Artigo de Revista Científica
Publicado em /11/2003 Português
Relevância na Pesquisa
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Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)n distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as...

‣ Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing

Cruz,Juliana B.; Fernandes,Leonardo P.S.; Clara,Sueli A.; Conde,Sandro J.; Perone,Denise; Kopp,Peter; Nogueira,Célia R.
Fonte: Sociedade Brasileira de Endocrinologia e Metabologia Publicador: Sociedade Brasileira de Endocrinologia e Metabologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2007 Português
Relevância na Pesquisa
56.84418%
The two index patients of the family analyzed in this study had undergone bilateral adrenalectomy for pheochromocytomas. This prompted genetic analyses of the probands and seven first-degree relatives. The two pheochromocytoma patients and two additional asymptomatic family members were found to harbor a mutation c496G>T in exon 3 of the VHL gene. The family was then lost to systematic follow-up. Three years after performing the initial genetic evaluation, the sister of the probands, who was known to carry the same VHL germline mutation, was referred to our service after a pregnancy that was complicated by preeclampsia. She reported paroxysms suggestive for pheochromocytoma, but her urinary metanephrines were negative. However, computerized tomography of the abdomen showed an adrenal mass that was also positive on metaiodobenzylguanidine (MIBG) scintigraphy. This study illustrates that molecular analysis of the index patient(s) can lead to the identification of presymptomatic relatives carrying the mutation. Moreover, despite negative urinary metanephrines, the identification of a specific mutation has led to an increased suspicion and detection of a pheochromocytoma in the sister of the probands.

‣ Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal

Schuler-Faccini,Lavínia; Osorio,Claudio Maria; Romariz,Flavia; Paneque,Milena; Sequeiros,Jorge; Jardim,Laura Bannach
Fonte: Sociedade Brasileira de Genética Publicador: Sociedade Brasileira de Genética
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2014 Português
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Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77%) of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4%) individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results...

‣ A comprehensive review of genetics and genetic testing in azoospermia

Hamada,Alaa J.; Esteves,Sandro C.; Agarwal,Ashok
Fonte: Faculdade de Medicina / USP Publicador: Faculdade de Medicina / USP
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2013 Português
Relevância na Pesquisa
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Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

‣ Genetic Testing of Children for Predisposition to Mood Disorders: Anticipating the Clinical Issues

Erickson, Jessica A.; Kuzmich, Lili; Ormond, Kelly E.; Gordon, Erynn; Christman, Michael F.; Cho, Mildred K.; Levinson, Douglas F.
Fonte: Springer US Publicador: Springer US
Tipo: Artigo de Revista Científica
Português
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57.05527%
Large-scale sequencing information may provide a basis for genetic tests for predisposition to common disorders. In this study, participants in the Coriell Personalized Medicine Collaborative (N = 53) with a personal and/or family history of Major Depressive Disorder or Bipolar Disorder were interviewed based on the Health Belief Model around hypothetical intention to test one’s children for probability of developing a mood disorder. Most participants (87 %) were interested in a hypothetical test for children that had high (“90 %”) positive predictive value, while 51 % of participants remained interested in a modestly predictive test (“20 %”). Interest was driven by beliefs about effects of test results on parenting behaviors and on discrimination. Most participants favored testing before adolescence (64 %), and were reluctant to share results with asymptomatic children before adulthood. Participants anticipated both positive and negative effects of testing on parental treatment and on children’s self-esteem. Further investigation will determine whether these findings will generalize to other complex disorders for which early intervention is possible but not clearly demonstrated to improve outcomes. More information is also needed about the effects of childhood genetic testing and sharing of results on parent–child relationships...

‣ Reaping the Full Health Benefits of the Human Genome: The Duty to Warn and The Need to Establish a Comprehensive Federal Regulatory Structure for Genetic Testing

Harrison, Margaret
Fonte: Harvard University Publicador: Harvard University
Tipo: Paper (for course/seminar/workshop)
Português
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This paper discusses the need for a comprehensive federal regulatory structure governing genetic testing. Particularly, the article proposes a legal standard to govern physicians’ duty to warn their patients about the implications that their genetic test results hold for relatives. The article advocates that this legal standard be tied to clinical guidelines developed by a national legislatively authorized commission. The author also suggests that a limited privilege exist for physicians or genetic counselors to warn family members directly when serious, imminent harm could be avoided thereby. The article also notes that such a legal standard is only justifiable if genetic tests’ safety and efficacy are assured by adequate regulatory oversight by the Food and Drug Administration (FDA) and other relevant federal agencies. The article concludes by discussing policy and legal arguments against greater FDA oversight of genetic testing and asserting that the FDA does have jurisdiction and should exercise it to regulate in-house genetic tests, – the so-called “home brews†– which constitute the majority of genetic tests provided.

‣ Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

Romanos, Jihane; Rosén, Anna; Kumar, Vinod; Trynka, Gosia; Franke, Lude; Szperl, Agata; Gutierrez-Achury, Javier; van Diemen, Cleo C; Kanninga, Roan; Jankipersadsing, Soesma A; Steck, Andrea; Eisenbarth, Georges; van Heel, David A; Cukrowska, Bozena; Bru
Fonte: BMJ Publishing Group Publicador: BMJ Publishing Group
Tipo: Artigo de Revista Científica
Português
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Background: The majority of coeliac disease (CD) patients are not being properly diagnosed and therefore remain untreated, leading to a greater risk of developing CD-associated complications. The major genetic risk heterodimer, HLA-DQ2 and DQ8, is already used clinically to help exclude disease. However, approximately 40% of the population carry these alleles and the majority never develop CD. Objective: We explored whether CD risk prediction can be improved by adding non-HLA-susceptible variants to common HLA testing. Design: We developed an average weighted genetic risk score with 10, 26 and 57 single nucleotide polymorphisms (SNP) in 2675 cases and 2815 controls and assessed the improvement in risk prediction provided by the non-HLA SNP. Moreover, we assessed the transferability of the genetic risk model with 26 non-HLA variants to a nested case–control population (n=1709) and a prospective cohort (n=1245) and then tested how well this model predicted CD outcome for 985 independent individuals. Results: Adding 57 non-HLA variants to HLA testing showed a statistically significant improvement compared to scores from models based on HLA only, HLA plus 10 SNP and HLA plus 26 SNP. With 57 non-HLA variants, the area under the receiver operator characteristic curve reached 0.854 compared to 0.823 for HLA only...

‣ Whither Pediatric Research and Predisposition Genetic Testing?

Farkas Patenaudel, Andrea; Sénécal, Karine; Avard, Denise
Fonte: GenEdit Publicador: GenEdit
Tipo: Artigo de Revista Científica Formato: 283178 bytes; application/pdf
Português
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67.28085%
Research in which children undergo genetic testing for predisposition to adult-onset diseases or disorders can lead to a better understanding of these conditions. It can possibly also help encourage early detection and the development of clinical and preventive interventions for those found to be at increased hereditary risk. Increasingly, predisposition testing is becoming part of pediatric genetic research. However, the paucity of normative texts about the conduct of pediatric research using predisposition genetic testing generates complex legal and ethical issues. Drawing on the current texts that govern predisposition genetic testing in research and the norms of pediatric research, we outline points of consensus and divergence as well as recommendations regarding predisposition genetic testing in pediatric research.

‣ Providing Genetic Testing Through the Private Sector: A View From Canada

Caulfield, Timothy; Burgess, Michael M.; Williams-Jones, Bryn
Fonte: ISUMA: Canadian Journal of Policy Research Publicador: ISUMA: Canadian Journal of Policy Research
Tipo: Artigo de Revista Científica
Português
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Genetic testing technologies are rapidly moving from the research laboratory to the market place. Very little scholarship considers the implications of private genetic testing for a public health care system such as Canada’s. It is critical to consider how and if these tests should be marketed to, and purchased by, the public. It is also imperative to evaluate the extent to which genetic tests are or should be included in Canada’s public health care system, and the impact of allowing a two-tiered system for genetic testing. A series of threshold tests are presented as ways of clarifying whether a genetic test is morally appropriate, effective and safe, efficient and appropriate for public funding and whether private purchase poses special problems and requires further regulation. These thresholds also identify the research questions around which professional, public and policy debate must be sustained: What is a morally acceptable goal for genetic services? What are the appropriate benefits? What are the risks? When is it acceptable that services are not funded under health care? And how can the harms of private access be managed?; Medical Research Council, the University of Alberta Health Law Institute, and the Centre for Applied Ethics at the University of British Columbia

‣ Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder

Suthers, G.; Armstrong, J.; McCormack, J.; Trott, D.
Fonte: British Med Journal Publ Group Publicador: British Med Journal Publ Group
Tipo: Artigo de Revista Científica
Publicado em //2006 Português
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Methods: This was a comparison of preintervention and postintervention cohorts of families carried out in a state wide clinical service providing genetic counselling and testing for people at risk of familial adult onset cancer. Unaffected relatives who were not clients of the service in 74 kindreds with familial mutations causing familial breast and ovarian cancer, hereditary non-polyposis colorectal cancer, or Cowden syndrome were included in the study. In the baseline cohort (41 kindreds), family members who were clients of the clinical service and had been shown to be carriers of mutations were asked to advise relatives that genetic testing was available. In the intervention cohort (33 kindreds), the clinical service obtained consent to advise at risk relatives by letter that genetic testing was available. The main outcome measures were: (a) proportion of unaffected first and second degree relatives of the proband in each family whose genetic status was clarified within 2 years of the mutation being identified in the family, and (b) concerns regarding privacy and autonomy voiced by relatives receiving these letters. Results: In the baseline cohort, the average proportion of relatives in each family whose genetic status was clarified was 23%. In the intervention cohort...

‣ An exploration of the communication preferences regarding genetic testing in individuals from families with identified breast/ovarian cancer mutations

Ratnayake, P.; Wakefield, C.; Meiser, B.; Suthers, G.; Price, M.; Duffy, J.; Tucker, K.
Fonte: Kluwer Acadmic Publishers Group Publicador: Kluwer Acadmic Publishers Group
Tipo: Artigo de Revista Científica
Publicado em //2011 Português
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The responsibility for informing at-risk relatives of the availability of genetic testing for breast/ovarian cancer gene (BRCA1 or BRCA2) mutations currently falls on the probands. This study explored the support needs of individuals from families with identified BRCA1 or BRCA2 mutations when communicating about genetic risk and genetic testing with at-risk family members. Thirty-nine semi-structured telephone interviews were conducted with individuals from families with identified BRCA mutations. Interview responses were cross-tabulated by sample characteristics using the qualitative research analysis software NVivo8. The development of educational materials, which individuals could use when communicating the risks of carrying a BRCA gene mutation with their relatives, was identified as a specific need. Many participants expressed a preference for a staged approach, where relatives are notified of their increased risk and the availability of genetic testing risk either face-to-face or via a letter, with additional educational sources, including brief written information or access to a website, made available for those wishing to access more in-depth information. This research identified a need for the development of educational/informational resources to support individuals with identified breast/ovarian cancer mutations to communicate with their at-risk relatives about genetic risk and genetic testing availability.; Paboda Ratnayake...

‣ The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil

Lajus,Tirzah Braz Petta
Fonte: Faculdade de Saúde Pública da Universidade de São Paulo Publicador: Faculdade de Saúde Pública da Universidade de São Paulo
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2015 Português
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The Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for hereditary breast and colorectal cancer syndrome screening. Her private insurance denied coverage for genetic testing because she lacks current or previous cancer diagnosis. After she appealed by lawsuit, the court was favorable and the test was performed using next-generation sequencing. A deletion of MLH1 exon 8 was found. We highlight the importance to offer genetic testing using multigene analysis for noncancer patients.

‣ For all my family's sake, I should go and find out: An Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer

Wakefield, C.; Ratnayake, P.; Meiser, B.; Suthers, G.; Price, M.; Duffy, J.; Tucker, K.
Fonte: Mary Ann Liebert Inc Publ Publicador: Mary Ann Liebert Inc Publ
Tipo: Artigo de Revista Científica
Publicado em //2011 Português
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57.22381%
Context: Despite proven benefits, the uptake of genetic counseling and testing by at-risk family members of BRCA1 and BRCA2 mutation carriers remains low. Aims: This study aimed to examine at-risk individuals’ reported reasons for and against familial cancer clinic (FCC) attendance and genetic testing. Methods: Thirty-nine telephone interviews were conducted with relatives of high-risk mutation carriers, 23% (n¼9) of whom had not previously attended an FCC. Interview responses were analyzed using the frameworks of Miles and Huberman. Results: The reasons most commonly reported for FCC attendance were for clarification of risk status and to gain access to testing. While disinterest in testing was one reason for FCC nonattendance, several individuals were unaware of their risk (n¼3) or their eligibility to attend an FCC (n¼2), despite being notified of their risk status through their participation in a large-scale research project. Individuals’ reasons for undergoing testing were in line with that reported elsewhere; however, concerns about discrimination and insurance were not reported in nontestees. Conclusions: Current guidelines regarding notifying individuals discovered to be at increased risk in a research, rather than clinical setting...

‣ Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I

Rolim, Luísa; Leite, Ângela; Lêdo, S.; Paneque, M.; Sequeiros, J.; Fleming, Manuela
Fonte: Clin Genet Publicador: Clin Genet
Tipo: Artigo de Revista Científica
Português
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57.194062%
Machado–Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. MJD and FAP-I are late-onset diseases, with symptoms emerging usually during adulthood. CGPP, which is the national reference centre for these disorders, has a genetic lab that offers diagnostic, pre-symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP- I and Huntington disease (HD). The present work is a review of our 10- year experience with psychological counselling of individuals at risk for MJD and FAP-I. Persons at risk for FAP-I may show a better response to pre-symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy. Psychological well-being and specific distress of MJD and FAP-I test applicants, before undergoing genetic testing (baseline level) and 3 to 6 months after disclosure of test results, have shown a low level of change, both in identified carriers and non-carriers. A major goal of psychological characterization of at-risk individuals for MJD and FAP-I is to determine the factors that influence the uptake of genetic testing.

‣ Genetic Testing and Government Regulation: The Growing Significance of Pharmacogenomics

Lumelsky, Anna E.
Fonte: Harvard University Publicador: Harvard University
Tipo: Paper (for course/seminar/workshop)
Português
Relevância na Pesquisa
67.370205%
Genetic testing, currently a diagnostic tool used by only a small fraction of the population, promises to become a routine and critical part of medical care and drug prescription in the near future. This change will come chiefly through improvements in pharmacogenomics, the use of genetic testing to tailor medical care to an individual's unique genetic makeup. Current regulation of genetic testing is inadequate to meet the challenges of this new regime. Federal regulatory agencies, and in particular the FDA, are currently unprepared for the dramatic increase in scope and complexity of both the prescription drug market and the genetic testing market that is likely to result from the rise of pharmacogenomics. Although government advisory committees and legal scholars have long called for reform of genetic testing regulation, they have focused excessively on the moral dilemmas raised by predictive genetic testing at the expense of the increasingly significant area of pharmacogenomic research. This article provides a brief description of genetic testing, pharmacogenomics, and the current regulatory system, and highlights several areas where change is long overdue.

‣ Predicting the Genetic Makeup of FDA

Yang, Tamara J.
Fonte: Harvard University Publicador: Harvard University
Tipo: Paper (for course/seminar/workshop)
Português
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57.251104%
Genetic testing holds promise as the either the most beneficial or the most destructive creation of the new millennium. The consequences of genetic testing research are far-reaching, with the potential for finding cures to diseases such as cancer, or destroying an individual's life by changing insurance ratings, employment opportunities, and reproductive decisions. The scientific, legal, socioeconomic, and ethical implications of genetic testing demand appropriate regulatory controls. The responsibility of regulation falls on various governmental agencies, including the Food and Drug Administration (FDA). However, the neophyte genetics industry, ever evolving through biotechnological developments, does not have sufficient safeguards to meet the challenges posed by the impending completion of the Human Genome Project. Whether FDA is the appropriate regulatory body to solve these imminent problems is a question requiring a detailed exploration of genetic testing, the Human Genome Project, FDA's history, current regulation of genetic testing, critiques of FDA involvement, and alternative solutions.

‣ Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: A challenge for molecular analysis and genetic counseling; Prenatal testing in Silver-Russell and Beckwith Wiedemann syndrome

Eggermann, Thomas; Brioude, Fr?d?ric; Russo, Silvia; Lombardi, Maria Paola; Bliek, Jet; Maher, Eamonn; Larizza, Lidia; Prawitt, Dirk; Netchine, Ir?ne; Gonzales, Marie; Gr?nskov, Karen; T?mer, Zeynep; Monk, David; Mannens, Marcel; Chrzanowska, Krystyna; Kr
Fonte: NPG Publicador: NPG
Tipo: Article; accepted version
Português
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This is the author accepted manuscript. The final version is available from NPG via http://dx.doi.org/10.1038/ejhg.2015.224; Beckwith?Wiedemann and Silver?Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu)...

‣ A comprehensive review of genetics and genetic testing in azoospermia

Hamada, Alaa J.; Esteves, Sandro C.; Agarwal, Ashok
Fonte: Universidade de São Paulo. Faculdade de Medicina Publicador: Universidade de São Paulo. Faculdade de Medicina
Tipo: info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion; ; Formato: application/pdf
Publicado em 01/01/2013 Português
Relevância na Pesquisa
67.11154%
Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

‣ The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil

Lajus,Tirzah Braz Petta
Fonte: Faculdade de Saúde Pública da Universidade de São Paulo Publicador: Faculdade de Saúde Pública da Universidade de São Paulo
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2015 Português
Relevância na Pesquisa
67.21176%
The Brazilian National Regulatory Agency for Private Health Insurance and Plans has recently published a technical note defining the criteria for the coverage of genetic testing to diagnose hereditary cancer. In this study we show the case of a patient with a breast lesion and an extensive history of cancer referred to a private service of genetic counseling. The patient met both criteria for hereditary breast and colorectal cancer syndrome screening. Her private insurance denied coverage for genetic testing because she lacks current or previous cancer diagnosis. After she appealed by lawsuit, the court was favorable and the test was performed using next-generation sequencing. A deletion of MLH1 exon 8 was found. We highlight the importance to offer genetic testing using multigene analysis for noncancer patients.