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Study highlights importance of screening for rare inherited iron metabolism defects

Over 40% of cases curated based on stringent clinical and laboratory criteria from the Indian subcontinent have an inherited iron metabolism defect on comprehensive genomic evaluation, report investigators in The Journal of Molecular Diagnostics. ....

Prateek Bhatia , Pankaj Sharma , Roberts Ohgami , Amita Trehan , Department Of Pathology , University Of Utah , Postgraduate Institute Of Medical Education , Washington University , Molecular Diagnostics , Pediatric Haematology Oncology Unit , Postgraduate Institute , Medical Education , Comprehensive Genomic Analysis Identifies , Diverse Landscape , Nonsideroblastic Iron Related Anemias , Pathogenic Variants , Iron Deficient Endemic Setting , Congenital Sideroblastic Anemias , Functional Profiling ,

Young Breast Cancer Survivors Without Germline Mutation Show Lower Risk of Second Cancer

Young breast cancer survivors without a specific genetic mutation have a lower risk of developing second primary breast cancer within 10 years of diagnosis. ....

Image Credit , Breast Cancer , Pathogenic Variants , Endocrine Therapy , Second Primary Breast Cancer ,

Invitae's Common Hereditary Cancers Panel Receives FDA Market Authorization

– First-of-its-kind authorization provides potential marketing differentiation and opportunities for largest testing category –
– Testament to Invitae s product and lab quality –
– Sets. ....

Peterd Beitsch , Clin Gastroenterol Hepatol , Piper Nicolosi , Amanda Mcquery , Linkedin Invitae , Edward Esplin , Whitney Espinel , Sarahe Coughlin , N Jewel Samadder , Robert Nussbaum , Hoki Luk , Invitae Common Hereditary Cancers Panel , Exchange Commission , Invitae Corporation , Common Hereditary Cancers Panel , Common Hereditary Cancer Panel , Common Hereditary Cancers , Market Authorization , Private Securities Litigation Reform Act , Quarterly Report , National Comprehensive Cancer Network Guidelines , Prostate Cancer , European Urology Oncology , Clinical Utility , Universal Germline Genetic Testing , Patients With Breast Cancer ,

Understanding Lynch Syndrome and Associated Cancer Risk: Identification

In this third episode of OncChats: Understanding Lynch Syndrome and Cancer Risk, Fay Kastrinos, MD, MPH, discusses testing guidance for identifying Lynch syndrome. ....

Fay Kastrinos , Columbia University Herbert Irving Comprehensive Cancer Center , Understanding Lynch Syndrome , Cancer Risk , Columbia University , Herbert Irving Comprehensive Cancer Center , Lynch Syndrome , Colorectal Cancer , Universal Testing Of Crc , Tumor Testing , Msi Testing , Dna Testing , Germline Testing , Next Generation Sequencing , Pathogenic Variants ,

Understanding Lynch Syndrome and Associated Cancer Risk: Epidemiology

In this second episode of OncChats: Understanding Lynch Syndrome and Cancer Risk, Fay Kastrinos, MD, MPH, delves into the epidemiology of Lynch syndrome, the pathogenic variants in the mismatch-repair genes that cause the condition, and criteria utilized to identify it. ....

United States , Fay Kastrinos , Columbia University Herbert Irving Comprehensive Cancer Center , Understanding Lynch Syndrome , Cancer Risk , Columbia University , Herbert Irving Comprehensive Cancer Center , Lynch Syndrome , Inherited Colon Cancer Syndrome , Pathogenic Variants , Mismatch Repair Genes , Colorectal Cancer , Autosomal Dominant Condition , Family History , Colon Cancer , Diagnosis Of Lynch Syndrome ,