Publication Date: Aug 27, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome.
Banerjee Indraneel et al. Wellcome open research 2019 4149 - De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.
Boskovski Marko T et al. Circulation. Genomic and precision medicine 2020 Aug 13(4) e002836 - Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson Daniel et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug - Highlights on Genomics Applications for Lysosomal Storage Diseases.
La Cognata Valentina et al. Cells 2020 Aug 9(8) - Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Ziats Catherine A et al. European journal of medical genetics 2020 Aug 104042 - Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi Heike et al. The Lancet. Neurology 2020 Sep 19(9) 738-747 - A 2020 update on the use of genetic testing for patients with primary immunodeficiency.
Chinn Ivan K et al. Expert review of clinical immunology 2020 Aug - Curative gene therapies for rare diseases.
Maldonado Rocio et al. Journal of community genetics 2020 Aug
Cancer Genomics
- Discordance in 21-gene recurrence scores between paired breast cancer samples is inversely associated with patient age.
Bernhardt Sarah M et al. Breast cancer research : BCR 2020 Aug 22(1) 90 - Comparison of Next-Generation Sequencing and Ventana Immunohistochemistry in Detecting ALK Rearrangements and Predicting the Efficacy of First-Line Crizotinib in Patients with Advanced Non-Small Cell Lung Cancer.
Zeng Liang et al. OncoTargets and therapy 2020 137101-7109 - Clinical implications of prospective genomic profiling of metastatic breast cancer patients.
van Geelen Courtney T et al. Breast cancer research : BCR 2020 Aug 22(1) 91 - [Analysis of gene mutations and clinic features in 108 patients with myeloproliferative neoplasm].
Tan Y X et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2020 Jul 41(7) 576-582 - Clinicopathologic features of breast cancer reclassified as HER2-amplified by fluorescence in situ hybridization with alternative chromosome 17 probes.
Blanton Kristen C et al. Annals of diagnostic pathology 2020 Aug 48151576 - Feasibility and clinical impact of routine molecular testing of gastrointestinal cancers at a tertiary centre with a multi-gene, tumor-agnostic, next generation sequencing panel.
Bregni Giacomo et al. Acta oncologica (Stockholm, Sweden) 2020 Aug 1-9 - The TP53 mutation rate differs in breast cancers that arise in women with high or low mammographic density.
Cheasley Dane et al. NPJ breast cancer 2020 634
Hereditary Cancer
- Sharing the initial experience of pan-cancer panel analysis in high-risk renal cell carcinoma in the Korean population.
Suh Jungyo et al. BMC urology 2020 Aug 20(1) 125 - Cost-effectiveness analysis of universal germline testing for patients with pancreatic cancer.
Krepline Ashley N et al. Surgery 2020 Aug - Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.
Park Kuenyoul et al. Journal of clinical laboratory analysis 2020 Aug e23524 - Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.
Kim Soyoun Rachel et al. Cancer 2020 Aug - Lack of familiarity with genetic testing among patients in Ireland with Cancer.
Mullally William J et al. Irish journal of medical science 2020 Aug - Impact of a Genetic Evaluation Initiative to Increase Access to Genetic Services for Adolescent and Young Adults at a Tertiary Cancer Hospital.
Makhnoon Sukh et al. Journal of adolescent and young adult oncology 2020 Aug - Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank.
Wei Jun et al. British journal of cancer 2020 Aug - Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.
Foglietta Jennifer et al. Genes 2020 Aug 11(8) - From Probands to Relatives: Communication of Genetic Risk for Hereditary Breast-Ovarian Cancer and Its Influence on Subsequent Testing.
Seven Memnun et al. Cancer nursing 2020 Aug - Incidence of haematological malignancies in adults in Szabolcs-Szatmár-Bereg county, Hungary. Analysis of data of a 36-year period
Jakó János et al. Orvosi hetilap 2020 161(34) 1400-1413 - Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.
Rogoza-Janiszewska Emilia et al. Cancers 2020 Aug 12(8) - Parent of Origin Effects on Family Communication of Risk in BRCA + Women: A Qualitative Investigation of Human Factors in Cascade Screening.
Dwyer Andrew A et al. Cancers 2020 Aug 12(8) - Male Breast Cancer Risk Assessment and Screening Recommendations in High-Risk Men Who Undergo Genetic Counseling and Multigene Panel Testing.
Gaddam Sushma et al. Clinical breast cancer 2020 Jul - Implementation of a High-Risk Breast Clinic for Comprehensive Care of Women With Elevated Breast Cancer Risk Identified by Risk Assessment Models in the Community.
Laws Alison et al. JCO oncology practice 2020 Aug OP2000256 - Differences in Breast and Cervical Cancer Screening Among U.S. Women by Nativity and Family History.
Donley Tiffany et al. American journal of preventive medicine 2020 Aug - A Pre-Test-Post-Test Trial of a Breast Cancer Risk Report for Women in Their 40s.
Schonberg Mara A et al. American journal of preventive medicine 2020 Sep 59(3) 343-354
Chronic Disease
- Systemic sclerosis pathogenesis: contribution of recent advances in genetics.
Orvain Cindy et al. Current opinion in rheumatology 2020 Aug - Genetics of Parkinson's disease.
Cherian Ajith et al. Acta neurologica Belgica 2020 Aug - Factors associated with irritable bowel syndrome among medical students at Ain Shams University.
Elhosseiny Doaa et al. The Journal of the Egyptian Public Health Association 2019 Dec 94(1) 23 - Association between telomere length and Parkinson's disease: a Mendelian randomization study.
Chen Ruoqing et al. Neurobiology of aging 2020 Jul - Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
El Roz Ali et al. Medical sciences (Basel, Switzerland) 2020 Aug 8(3) - Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts.
Calender Alain et al. Journal of clinical medicine 2020 Aug 9(8) - Genome-wide identification of m 6 A-associated single-nucleotide polymorphisms in Parkinson's disease.
Qiu Xiaohui et al. Neuroscience letters 2020 Aug 135315
Ethical, Legal and Social Issues (ELSI)
- Willingness to Participate in Health Research Among Community-Dwelling Middle-Aged and Older Adults: Does Race/Ethnicity Matter?
Milani Sadaf Arefi et al. Journal of racial and ethnic health disparities 2020 Aug - Challenges of Genetic Data Sharing in African Studies.
Stein Catherine M et al. Trends in genetics : TIG 2020 Aug - Disclosing genetic information to family members without consent: Five Australian case studies.
Tiller Jane et al. European journal of medical genetics 2020 Aug 104035 - Assessing the Ethical Distinctions Between Different Types of Prospective Human Germline Genetic Interventions.
Chapman Audrey R et al. The American journal of bioethics : AJOB 2020 20(8) 49-50
General Practice
- Precision Medicine in the Era of Huge Cohorts and Dense Phenotypic Data.
Denny Josh et al. Journal of biomolecular techniques : JBT 2020 Aug 31(Suppl) S39 - Familial Risk for Moyamoya Disease Among First-Degree Relatives, Based on a Population-Based Aggregation Study in Korea.
Ahn Hyeong Sik et al. Stroke 2020 Aug STROKEAHA120029251 - Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada.
Cook Courtney B et al. European journal of medical genetics 2020 Aug 104024 - Airmen and health-care providers' attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project.
Pereira Stacey et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug - Genetic feedback for psychiatric conditions: Where are we now and where are we going.
Driver Morgan N et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2020 Aug - [Management of Secondary Findings].
Kosugi Shinji et al. Gan to kagaku ryoho. Cancer & chemotherapy 2020 Aug 47(8) 1153-1157 - Association of Recent Stressful Life Events With Mental and Physical Health in the Context of Genomic and Exposomic Liability for Schizophrenia.
Pries Lotta-Katrin et al. JAMA psychiatry 2020 Aug - Personalized medicine in Latin America.
Panduro Arturo et al. Personalized medicine 2020 Aug
Heart, Lung, Blood and Sleep Diseases
- Fetal Hemoglobin in Sickle Cell Anemia.
Steinberg Martin H et al. Blood 2020 Aug - Cystic fibrosis in low and middle-income countries (LMIC): A view from four different regions of the world.
da Silva Filho Luiz Vicente Ribeiro Ferreira et al. Paediatric respiratory reviews 2020 Jul - Clinical utility of genetic testing in patients with dilated cardiomyopathy.
Peña-Peña Maria Luisa et al. Medicina clinica 2020 Aug - SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.
Huang Wei-Chih et al. PloS one 2020 15(8) e0237731 - Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway.
Bathen Trine et al. American journal of medical genetics. Part A 2020 Aug - Cascade screening and treatment of children with familial hypercholesterolemia in Turkey.
Kose Engin et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Aug - Prevalence Of familial hypercholeSTerolaemia (FH) in Italian Patients with coronary artERy disease: The POSTER study.
Gulizia Michele Massimo et al. Atherosclerosis 2020 Jul 30832-38 - Management of familial hypercholesterolaemia in childhood.
Ramaswami Uma et al. Current opinion in pediatrics 2020 Aug - Clinical Utilization and Cost of Thrombophilia Testing in Patients with Venous Thromboembolism.
Gaddh Manila et al. TH open : companion journal to thrombosis and haemostasis 2020 Jul 4(3) e153-e162
Newborn Screening
- Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2) - Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
Farrell Michael H et al. The Journal of pediatrics 2020 Sep 22444-50.e1 - Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening.
Allaf Bichr et al. Clinical chemistry and laboratory medicine 2020 Aug - A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2) - Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Adhikari Aashish N et al. International journal of neonatal screening 2020 Jun 6(2)
Pharmacogenomics
- A population approach of rifampicin pharmacogenetics and pharmacokinetics in Mexican patients with tuberculosis.
Medellin-Garibay Susanna Edith et al. Tuberculosis (Edinburgh, Scotland) 2020 Aug 124101982 - Identification of high-impact gene-drug pairs for pharmacogenetic testing in Alberta, Canada.
Fan Mikayla et al. Pharmacogenetics and genomics 2020 Aug - Advances in Genomics for Drug Development.
Spreafico Roberto et al. Genes 2020 Aug 11(8) - Clinical Utility of CYP2C19 Genotype-Guided Antiplatelet Therapy in Patients at Risk of Adverse Cardiovascular and Cerebrovascular Events: A Review of Emerging Evidence.
Gower Megan N et al. Pharmacogenomics and personalized medicine 2020 13239-252
Reproductive Health
- Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.
Flowers Nicola Jane et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Aug - Committee Opinion No. 406: Prenatal testing after IVF with preimplantation genetic testing for aneuploidy.
Zwingerman Rhonda et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Aug
Event
- LIVING WITH LYNCH 2020- Virtual Patient Workshop
Alive and Kicking and Colon Cancer Foundation Webinar October 9, 2020 - Public Health Webinar Series on Blood Disorders: Update on COVID-19 and Thrombosis Risk
September 17, 2020 - 2:00-3:00 PM ET - Michigan Cancer Genetics Alliance (MCGA) Zoom Meeting: "Improving Appropriate Access to Cancer Genetics Services in Michigan"
Friday, August 28, 2020; 8:30 AM-12:30 PM.
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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