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https://www.readbyqxmd.com/read/28782058/consistency-of-brca1-and-brca2-variant-classifications-among-clinical-diagnostic-laboratories
#1
Stephen E Lincoln, Shan Yang, Melissa S Cline, Yuya Kobayashi, Can Zhang, Scott Topper, David Haussler, Benedict Paten, Robert L Nussbaum
BACKGROUND: Genetic tests of the cancer predisposition genes BRCA1 and BRCA2 inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few are pathogenic (disease-causing) is sometimes challenging and can potentially be inconsistent among laboratories. The ClinVar database makes de-identified clinical variant classifications from multiple laboratories publicly available for comparison and review, per recommendations of the American Medical Association (AMA), the American College of Medical Genetics (ACMG), the National Society for Genetic Counselors (NSGC), and other organizations...
July 2017: JCO Precis Oncol
https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#2
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28726804/diagnostic-cytogenetic-testing-following-positive-noninvasive-prenatal-screening-results-a-clinical-laboratory-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#3
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South, James H Tepperberg, Jeanne M Meck
Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
August 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28706611/a-novel-variant-in-the-pah-gene-causing-phenylketonuria-in-an-iranian-pedigree
#4
Elaheh Alavinejad, Seyede Zahra Sajedi, Masoumeh Razipour, Mona Entezam, Neda Mohajer, Aria Setoodeh, Saeed Talebi, Mohammad Keramatipour
BACKGROUND: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedigree with phenylketonuria was introduced. METHODS: A consanguineous family with a 10-year old affected girl was referred for genetic analysis. Mutation screening of all exons and exon-intron boundaries was performed by Sanger sequencing, and mini haplotype analysis was carried out by genotyping of Short Tandem Repeat (STR) and Variable Number Tandem Repeat (VNTR) alleles...
July 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28689263/variation-among-consent-forms-for-clinical-whole-exome-sequencing
#5
Sara A Fowler, Carol J Saunders, Mark A Hoffman
The goal of this study was to explore variation among informed consent documents for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) regarding informed consent for clinical WES. Recommendations were organized into a framework of key points for analysis. Content analysis was conducted on a sample of informed consent documents for clinical WES downloaded from 18 laboratory websites...
July 8, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28682309/laboratory-diagnosis-of-biotinidase-deficiency-2017-update-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#6
Erin T Strovel, Tina M Cowan, Anna I Scott, Barry Wolf
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
July 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28671958/clinical-genome-sequencing-and-population-preferences-for-information-about-incidental-findings-from-medically-actionable-genes-mags-to-patient-actionable-genes-pags
#7
Thomas Ploug, Søren Holm
Whole genome or exome sequencing is increasingly used in the clinical contexts, and 'incidental' findings are generated. There is need for an adequate policy for the reporting of these findings to individuals. Such a policy has been suggested by the American College of Medical Genetics and Genomics (ACMG). We argue that ACMG's policy is overly paternalistic, and that an adequate policy must take into account population preferences. We conducted a choice based conjoint survey of population preferences for reporting in a representative sample of the Danish population...
2017: PloS One
https://www.readbyqxmd.com/read/28661487/cap-acmg-proficiency-testing-for-biochemical-genetics-laboratories-a-summary-of-performance
#8
Devin Oglesbee, Tina M Cowan, Marzia Pasquali, Timothy C Wood, Karen E Weck, Thomas Long, Glenn E Palomaki
PurposeTesting for inborn errors of metabolism is performed by clinical laboratories worldwide, each utilizing laboratory-developed procedures. We sought to summarize performance in the College of American Pathologists' (CAP) proficiency testing (PT) program and identify opportunities for improving laboratory quality. When evaluating PT data, we focused on a subset of laboratories that have participated in at least one survey since 2010.MethodsAn analysis of laboratory performance (2004 to 2014) on the Biochemical Genetics PT Surveys, a program administered by CAP and the American College of Medical Genetics and Genomics...
June 29, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28597968/genetic-epidemiology-of-familial-mediterranean-fever-through-integrative-analysis-of-whole-genome-and-exome-sequences-from-middle-east-and-north-africa
#9
Remya Koshy, Ambily Sivadas, Vinod Scaria
Familial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. Though the carrier frequency of specific disease variants in the MEFV gene has been reported from isolated studies, a comprehensive view of variants in the Mediterranean region has not been possible due to paucity of data. The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region...
June 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28545862/a-novel-pathogenic-variant-in-the-fzd6-gene-causes-recessive-nail-dysplasia-in-a-large-iranian-kindred
#10
Javad Mohammadi-Asl, Mohammad Reza Pourreza, Aliasgar Mohammadi, Ameneh Eskandari, Sima Mozafar-Jalali, Mohammad Amin Tabatabaiefar
BACKGROUND: Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is a component of Wnt-FZD signaling pathway in which recessive loss-of-function variants in the corresponding genes could lead to nail anomalies. OBJECTIVE: A large multiplex family with NDNC was referred for genetic counselling. Thorough genetic evaluation was performed. METHODS: PCR-Sanger sequencing was carried out for the coding exons and exon-intron boundaries of the FZD6 gene...
May 13, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28512758/reporting-practices-for-unsolicited-and-secondary-findings-from-next-generation-sequencing-technologies-perspectives-of-laboratory-personnel
#11
Danya F Vears, Karine Sénécal, Pascal Borry
While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported...
August 2017: Human Mutation
https://www.readbyqxmd.com/read/28492532/sherloc-a-comprehensive-refinement-of-the-acmg-amp-variant-classification-criteria
#12
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper
PurposeThe 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspects of the guidelines lack specificity, are subject to varied interpretations, or fail to capture relevant aspects of clinical molecular genetics. A simple implementation of the guidelines in their current form is insufficient for consistent and comprehensive variant classification...
May 11, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28492529/corrigendum-acmg-recommendations-for-reporting-of-incidental-findings-in-clinical-exome-and-genome-sequencing
#13
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond, Heidi L Rehm, Michael S Watson, Marc S Williams, Leslie G Biesecker
No abstract text is available yet for this article.
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28449774/utility-of-post-mortem-genetic-testing-in-cases-of-sudden-arrhythmic-death-syndrome
#14
Najim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, Efstathios Papatheodorou, James S Ware, Michael Papadakis, Rafik Tadros, Della Cole, Jonathan R Skinner, Jackie Crawford, Donald R Love, Chee J Pua, Bee Y Soh, Jaydutt D Bhalshankar, Risha Govind, Jacob Tfelt-Hansen, Bo G Winkel, Christian van der Werf, Yanushi D Wijeyeratne, Greg Mellor, Jan Till, Marta C Cohen, Maria Tome-Esteban, Sanjay Sharma, Arthur A M Wilde, Stuart A Cook, Connie R Bezzina, Mary N Sheppard, Elijah R Behr
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes...
May 2, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28406490/acmg-secondary-findings-2-0
#15
Leslie G Biesecker
No abstract text is available yet for this article.
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28406489/consensus-recommendation-for-a-diagnostic-guideline-for-acid-sphingomyelinase-deficiency
#16
Margaret M McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K Mistry, Edward H Schuchman, Melissa P Wasserstein
Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease...
April 13, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28391405/postmortem-genetic-testing-should-be-recommended-in-sudden-cardiac-death-cases-due-to-thoracic-aortic-dissection
#17
Marina Gago-Díaz, Eva Ramos-Luis, Silvia Zoppis, Esther Zorio, Pilar Molina, Aitana Braza-Boïls, Juan Giner, Beatriz Sobrino, Jorge Amigo, Alejandro Blanco-Verea, Ángel Carracedo, María Brion
BACKGROUND: Acute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases...
April 8, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28383573/corrigendum-recommendations-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-2016-update-acmg-sf-v2-0-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics
#18
(no author information available yet)
No abstract text is available yet for this article.
April 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28366031/what-do-the-new-american-college-of-medical-genetics-and-genomics-acmg-guidelines-mean-for-the-provision-of-non-invasive-prenatal-genetic-screening
#19
Megan Allyse, Myra J Wick
In 2016, the American College of Medical Genetics and Genomics updated their practice guidelines on the provision of non-invasive prenatal genomic screening using cell-free DNA. This article lays out the changes to the guidelines and their implications for clinical practice. Impact Statement What is already known on this subject.cfDNA is being translated into prenatal clinical practice at a rapid pace. Various professional societies have attempted to provide ongoing guidance for this translation. What the results of this study add...
April 1, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28364669/suggestion-of-brca1-c-5339t-c-p-l1780p-variant-confer-from-unknown-significance-to-likely-pathogenic-based-on-clinical-evidence-in-korea
#20
Jai Min Ryu, Goeun Kang, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Se Kyung Lee, Soo Youn Bae, Sungmin Park, Hyun-June Paik, Jong-Won Kim, Sung-Shin Park, Jeong Eon Lee, Sung-Won Kim
PURPOSE: We describe a rationale for the re-classification of the BRCA1 c.5539T>C (L1780P) variant using a clinical evidence. METHODS: A retrospective review was conducted to identify all patients with breast or ovarian cancer and the L1780P variant between 2002 and 2015 at a single institution. RESULTS: We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer. Of the 160 BRCA 1/2 variant unknown significance, 16 (10...
March 29, 2017: Breast: Official Journal of the European Society of Mastology
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