A5023789392- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Disability Rights and Representation
- Gene expression and cancer classification
- DNA Repair Mechanisms
- Family and Disability Support Research
- Viral Infections and Immunology Research
- Prenatal Screening and Diagnostics
- Colorectal Cancer Screening and Detection
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Cancer-related molecular mechanisms research
- Molecular Biology Techniques and Applications
- RNA Research and Splicing
Ambry Genetics (United States)
2015-2024
PurposeDespite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications and genes to include.MethodsTo inform clinical approach MGPT, we comprehensively evaluated 32 predisposition by assessing phenotype-specific pathogenic variant (PV) frequencies, risk associations, performance genetic criteria in a cohort 165,000 patients referred MGPT.ResultsWe identified extensive heterogeneity types commonly germline...
Determination of the clinical relevance rare germline variants uncertain significance (VUSs) in BRCA2 cancer predisposition gene remains a challenge as result limited availability data for use classification models. However, laboratory-based functional derived from validated assays known sensitivity and specificity may influence interpretation VUSs. We evaluated 252 missense VUSs DNA-binding domain by using homology-directed DNA repair (HDR) assay identified 90 non-functional 162 functional....
PURPOSE The current diagnostic testing algorithm for Lynch syndrome (LS) is complex and often involves multiple follow-up germline somatic tests. We aimed to describe the results of paired tumor/germline performed on a large cohort patients with colorectal cancer (CRC) endometrial (EC) better determine utility this novel methodology. MATERIALS AND METHODS retrospectively reviewed consecutive series CRC EC undergoing analysis LS genes at clinical laboratory (N = 702). Microsatellite...
Germline variants in POT1 have been implicated predisposition to melanoma, sarcoma, and glioma limited studies. Here, we determine the prevalence of cancer types individuals with pathogenic (PVs) undergoing multigene panel testing (MGPT) for a broad variety indications.We performed retrospective review data provided on clinical documents from PVs identified via MGPT over 5-year period. Tumor PV heterozygotes was compared MGPT-negative wild-type (WT) controls using χ2 test.POT1 were 227...
Despite advances in genetic testing for Lynch syndrome, nearly one quarter of mismatch repair-deficient (MMRd) colorectal and endometrial cancers remain unexplained. When added to germline DNA testing, RNA sequencing can increase diagnostic yield, improve variant classification reduce variants uncertain significance. Here, we describe two cases where uncovered likely pathogenic MSH2 families with MMRd tumours that were initially unexplained following comprehensive syndrome.
1549 Background: The purpose of this study is to explore the mutation spectrum and prevalence among women with breast uterine cancer (BUC) who were clinician-referred for multi-gene panel testing. Methods: Clinical histories patients underwent testing at a single commercial laboratory (Ambry Genetics, Aliso Viejo, CA) retrospectively reviewed select cases history both cancer. Patients comprehensive analysis 6-28 genes, depending on ordered. Gene-specific frequencies calculated compared age-...
e13109 Background: Many multigene panel (MGP) options are available for hereditary cancer testing. Previously, management guidelines were only published a few high-risk genes, but now such exist most genes on MGPs. clinicians question which MGP(s) may be appropriate their patients. We examined the likelihood of positive result patients diagnosed with breast (BC) or colorectal (CRC) across several MGPs and assessed potential impact these results patient care. Methods: Positive results,...