External Validation of a Deep Learning Model for Predicting Mammographic Breast Density in Routine Clinical Practice. External Web Site Icon Dontchos Brian N et al. Academic radiology 2020 Feb

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Breast Cancer

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Last Posted: Feb 26, 2020

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• External Validation of a Deep Learning Model for Predicting Mammographic Breast Density in Routine Clinical Practice. 
  Dontchos Brian N et al. Academic radiology 2020 Feb
• Germline mutation in 1,338 BRCA-negative Chinese hereditary breast and/or ovarian cancer patients: clinical testing with a multigene test panel. 
  Kwong Ava et al. The Journal of molecular diagnostics : JMD 2020 Feb
• Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up. 
  Pellini F et al. Journal of oncology 2020 20203987935
• miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil. 
  Pessôa-Pereira Danielle et al. BMC cancer 2020 Feb 20(1) 143
• Nutrigenomics and Breast Cancer: State-of-Art, Future Perspectives and Insights for Prevention. 
  Sellami Maha et al. Nutrients 2020 Feb 12(2)
• Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors. 
  Reid Sonya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb
• Management of Male Breast Cancer: ASCO Guideline. 
  Hassett Michael J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Feb JCO1903120
• Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer. 
  Nguyen-Dumont Tu et al. Familial cancer 2020 Feb
• Trend and survival benefit of Oncotype DX use among female hormone receptor-positive breast cancer patients in 17 SEER registries, 2004-2015. 
  Zhang Lu et al. Breast cancer research and treatment 2020 Feb
• [Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications]. 
  Koual Meriem et al. Annales de pathologie 2020 Feb
• A regional population-based hereditary breast cancer screening tool in Italy: First 5-year results. 
  Cortesi Laura et al. Cancer medicine 2020 Feb
• Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation. 
  Radke Teja Falk et al. European journal of human genetics : EJHG 2020 Feb
• Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer. 
  Kurian Allison W et al. JAMA oncology 2020 Feb e196400
• Case-Based Review and Clinical Guidance on the Use of Genomic Assays for Early-Stage Breast Cancer: Breast Cancer Therapy Expert Group (BCTEG). 
  Kittaneh Muaiad et al. Clinical breast cancer 2020 Jan
• Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG. 
  Soenderstrup I M H et al. Acta oncologica (Stockholm, Sweden) 2018 Jan 57(1) 95-101

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. Chen Bo et al. Aging 2020 Feb 12

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Last Posted: Feb 27, 2020

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• Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
  Chen Bo et al. Aging 2020 Feb 12
• Risk score based on expression of five novel genes predicts survival in soft tissue sarcoma.
  Gu Hui-Yun et al. Aging 2020 Feb 12
• Biological Versus Chronological Aging- JACC Focus Seminar
  JACC Focus Seminar, February 2020
• ApoE e2 and aging-related outcomes in 379,000 UK Biobank participants
  CL Kuo et al, MedRXIV, February 13, 2020
• Artificial intelligence approaches to predicting and detecting cognitive decline in older adults: A conceptual review.
  Graham Sarah A et al. Psychiatry research 2019 Dec 284112732
• Mirror, Mirror, On The Wall: The Epigenetics Of Aging
  E Matloff, Forbes, January 24, 2020
• The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
  M Pinese, Nature Communications, January 2020
• Metabolomic profiling of dried blood spots reveals gender-specific discriminant models for the diagnosis of small cell lung cancer.
  Yu Li et al. Aging 2020 Jan 12
• Prediction of hepatocellular carcinoma prognosis based on expression of an immune-related gene set.
  He Yuting et al. Aging 2020 Jan 12
• Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging.
  Teo Jing Xian et al. Communications biology 2019 Oct 2(1) 361

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Cell-Free DNA as a Diagnostic Blood-Based Biomarker for Colorectal Cancer: A Systematic Review. Petit Joel et al. The Journal of surgical research 2019 236184-197

Hot Topics of the Day|PHGKB


Last Posted: Feb 28, 2020

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• Cell-Free DNA as a Diagnostic Blood-Based Biomarker for Colorectal Cancer: A Systematic Review.
  Petit Joel et al. The Journal of surgical research 2019 236184-197
• Interobserver Agreement for Mismatch Repair Protein Immunohistochemistry in Endometrial and Nonserous, Nonmucinous Ovarian Carcinomas.
  Sari Aysegul et al. The American journal of surgical pathology 2019 43(5) 591-600
• Prognostic and predictive significance of microsatellite instability in stage II colorectal carcinoma: An 8-year study from a tertiary center in South India.
  Paulose Roopa R et al. Indian journal of cancer 56(4) 302-308
• Using a single abdominal computed tomography image to differentiate five contrast-enhancement phases: A machine-learning algorithm for radiomics-based precision medicine.
  Dercle Laurent et al. European journal of radiology 2020 Jan 125108850
• Should polygenic risk scores be used in risk-stratified colorectal cancer screening?
  WD Dotson et al, CDC Blog Post, February 24, 2020
• Cross-sectional adherence with the multi-target stool DNA test for colorectal cancer screening: Real-world data from a large cohort of older adults.
  Weiser Emily et al. Journal of medical screening 2020 Feb 969141320903756
• [Clinical Cancer Genetics: A guide for the pathologist].
  Basset Noémie et al. Annales de pathologie 2020 Feb
• Early detection of colorectal cancer based on presence of methylated syndecan-2 (SDC2) in stool DNA.
  Han Yoon Dae et al. Clinical epigenetics 2019 11(1) 51
• Prognostic and Predictive Molecular Biomarkers for Colorectal Cancer: Updates and Challenges.
  Koncina Eric et al. Cancers 2020 Jan 12(2)
• Young-Onset Colon Cancer and Recurrence Risk By Gene Expression.
  Chang George J et al. Journal of the National Cancer Institute 2020 Feb

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Annual DNA Day Essay Contest ASHG, 2020

Hot Topics of the Day|PHGKB


Last Posted: Feb 25, 2020

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• Annual DNA Day Essay Contest
  ASHG, 2020
• 2020 Question (Ancestry Testing)
  ASHG, November 2019
• 2019 Events- Crossing Cultures: An Exploration of Microbial Music and the Community Bio Movement
  NHGRI, 2019
• Get Involved in DNA Day
  ASHG, 2019
• Take Initiative: DNA Day Engagement and You
  ASHG Webinar, February 21, 2019
• 2019 National DNA Day Contest Question
  ASHG, October 2018
• DTC: Direct to Children?
  K Stoll, DNA Exchange, May 2018
• 65 Years of DNA
  Frontline Genomics, Apr 25, 2018
• '15 for 15' Celebration- Fifteen ways genomics is now influencing our world
  NHGRI, Apr 2018
• Broad Institute to sequence its 100,000th whole human genome on National DNA Day
  Broad Institute, Apr 24, 2018

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Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine. Kondkar Altaf A et al. Experimental eye research 2019 189107834

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

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• Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.
  Kondkar Altaf A et al. Experimental eye research 2019 189107834
• The Potential Benefits of Deferred Payment for a Hypothetical Gene Therapy for Congestive Heart Failure: A Cost-Consequence Analysis.
  Hlávka Jakub P et al. Applied health economics and health policy 2020 Feb
• Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
  JC Kapetanovic et al. Nature Medicine, February 24, 2020
• Recent highlights and advances in cardiac gene therapy.
  Oh Jae Gyun et al. Discovery medicine 28(155) 229-235
• Clinical Development on the Frontier: Gene Therapy for Duchenne Muscular Dystrophy.
  Asher Damon R et al. Expert opinion on biological therapy 2020 Feb
• Investigational Hemophilia A Gene Therapy Shows Sustained Benefit
  J Abbasi, JAMA, February 11, 2020
• Lentiviral gene therapy for X-linked chronic granulomatous disease
  DB Kohn et al, Nature Medicine, January 27, 2020
• Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents.
  Landrum Peay Holly et al. PloS one 2019 14(5) e0213649
• The impact of exome sequencing on diagnostic yield of muscular dystrophies in consanguineous families.
  Dardas Zain et al. European journal of medical genetics 2020 Jan 103845
• The National Gene Vector Biorepository. Eleven Years of Providing Resources to the Gene Therapy Community.
  Cornetta Kenneth G et al. Human gene therapy 2020 Jan

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New research directions on disparities in obesity and type 2 diabetes. Thornton Pamela L et al. Annals of the New York Academy of Sciences 2020 Feb 1461(1) 5-24

Hot Topics of the Day|PHGKB


Last Posted: Feb 26, 2020

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• New research directions on disparities in obesity and type 2 diabetes.
  Thornton Pamela L et al. Annals of the New York Academy of Sciences 2020 Feb 1461(1) 5-24
• Selecting the optimal risk threshold of diabetes risk scores to identify high-risk individuals for diabetes prevention: a cost-effectiveness analysis.
  Mühlenbruch Kristin et al. Acta diabetologica 2019 Nov
• Screening for chronic conditions with reproductive factors using a machine learning based approach.
  Tian Siyu et al. Scientific reports 2020 Feb 10(1) 2848
• Aspirin for Prevention of Cardiovascular Disease
  AT Peters et al, JAMA Patient Page, February 18, 2020
• Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing.
  Campbell Michelle Renee et al. Expert review of molecular diagnostics 2020 Feb
• Using Social Media to Track Geographic Variability in Language About Diabetes: Analysis of Diabetes-Related Tweets Across the United States.
  Griffis Heather et al. JMIR diabetes 2020 Jan 5(1) e14431
• Parkinsons disease determinants, prediction and gene-environment interactions in the UK Biobank
  BM Jacobs, BIORXIV, February 15, 2020
• Genetic profile may predict chance of type 2 diabetes among women with gestational diabetes
  NIH News Release, February 13, 2020
• [Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016].
  Giordani Barbara et al. Epidemiologia e prevenzione 43(4S1) 1-36
• Application of Machine Learning Models to Evaluate Hypoglycemia Risk in Type 2 Diabetes.
  Mueller Luke et al. Diabetes therapy : research, treatment and education of diabetes and related disorders 2020 Feb

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Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries. El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

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• Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.
  El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987
• Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
  Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359
• Primary Immunodeficiencies Worldwide
  Frontiers collection of articles, 2020
• Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.
  Abolhassani Hassan et al. Journal of clinical immunology 2018 38(7) 816-832
• Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework.
  Haas Oskar A et al. Frontiers in immunology 2018 93136
• Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots.
  Richards Stephanie et al. Journal of paediatrics and child health 2018 54(1) 14-19
• Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients.
  Mo Wenyuan et al. Experimental hematology 2019 Sep
• Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.
  Chinn Ivan K et al. The Journal of allergy and clinical immunology 2019 Sep
• Diagnosis of primary immunodeficiency diseases in the developing world: the need for education and networking with the developed world.
  Villavicencio Maria Fernanda et al. Current opinion in pediatrics 2019 Sep
• Prevalence of Immunodeficiency in Children With Invasive Pneumococcal Disease in the Pneumococcal Vaccine Era: A Systematic Review.
  Butters Coen et al. JAMA pediatrics 2019 Sep

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