A5012806187- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Tumors and Oncological Cases
- RNA Research and Splicing
- Aortic Thrombus and Embolism
- Biotechnology and Related Fields
- Wnt/β-catenin signaling in development and cancer
- Histiocytic Disorders and Treatments
- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Tuberous Sclerosis Complex Research
Invitae (United States)
2022
Ambry Genetics (United States)
2018-2020
There is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and US Food Drug Administration limits type of health-related claims DTC tests can market. Some companies provide raw genotyping data to customers if requested, these may include variants occurring in genes recommended by American College Medical Genetics Genomics be reported as incidental/secondary findings. The purpose this study was review outcome requests clinical confirmation results that were...
The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics Association for Molecular Pathology (ACMG/AMP) provided genetics community with a framework to assess pathogenicity; however, these rules are not gene specific. Germline pathogenic variants CDH1 cause hereditary diffuse gastric cancer lobular breast cancer, clinically challenging predisposition syndrome that often requires multidisciplinary team experts be properly managed. Given this...
Performing DNA genetic testing (DGT) for hereditary cancer genes is now a well-accepted clinical practice; however, the interpretation of variation remains challenge laboratories and clinicians. Adding RNA (RGT) enhances DGT by clarifying actionability gene variants, thus improving clinicians' ability to accurately apply strategies risk reduction treatment.To evaluate whether RGT associated with improvement in diagnostic outcome delivery personalized management patients...
11080 Background: Universal germline genetic testing (GGT) for patients with ovarian (OV), pancreatic (PANC), and early-onset colorectal, endometrial cancer, breast cancer (CRC <50, ENDO BR ≤50) is the medically necessary standard of care per clinical guidelines many payer medical policies. Individuals multiple cancers, diagnosed at any age (MULTI), also commonly meet these GGT. We report a single national laboratory experience GGT coverage indications. Methods: Patients between...
Most truncating cadherin 1 ( CDH1 ) pathogenic alterations confer an elevated lifetime risk of diffuse gastric cancer (DGC) and lobular breast (LBC). However, transcripts containing carboxy-terminal premature stop codons have been demonstrated to escape the nonsense-mediated mRNA decay pathway, risks associated with these truncations should be carefully evaluated. A female patient underwent multigene panel testing because a personal history invasive LBC diagnosed at age 54, which identified...