A5032698481- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Lipoproteins and Cardiovascular Health
- RNA Research and Splicing
- Cancer-related Molecular Pathways
- Genetic Associations and Epidemiology
- Cancer, Lipids, and Metabolism
- Biomedical Ethics and Regulation
- DNA Repair Mechanisms
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Topic Modeling
- Health, Environment, Cognitive Aging
- Natural Language Processing Techniques
- CRISPR and Genetic Engineering
- Muscle Physiology and Disorders
- Breast Lesions and Carcinomas
- Biomedical and Engineering Education
- RNA and protein synthesis mechanisms
- Infrared Target Detection Methodologies
- Cancer Risks and Factors
- Mycobacterium research and diagnosis
Ambry Genetics (United States)
2018-2023
Konica Minolta (United States)
2020
University of Tennessee at Knoxville
2014
UCLA Medical Center
2000-2002
Los Angeles Medical Center
2000-2002
Biotechnology Institute
2002
University of Maryland, Baltimore
2002
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...
Germline genetic testing is recommended by practice guidelines for patients diagnosed with cancer to enable genetically targeted treatment and identify relatives who may benefit from personalized screening prevention.
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...
Abstract Germline variants in tumor suppressor genes (TSGs) can result RNA mis-splicing and predisposition to cancer. However, identification of that impact splicing remains a challenge, contributing substantial proportion patients with suspected hereditary cancer syndromes remaining without molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) generate profile 18 TSGs ( APC , ATM BRCA1 BRCA2 BRIP1 CDH1 CHEK2 MLH1 MSH2 MSH6 MUTYH NF1 PALB2 PMS2 PTEN RAD51C RAD51D...
Personalized surveillance, prophylaxis, and cancer treatment options for individuals with hereditary predisposition are informed by results of germline genetic testing. Improvements to genomic technology, such as the availability RNA sequencing, may increase identification eligible personalized interventions improving accuracy yield
Abstract DNA germline genetic testing can identify individuals with cancer susceptibility. However, sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations variant identification interpretation by pairing RNA describe mutational landscape a clinical cohort 43,524 undergoing for hereditary predisposition.
The relationship of breast cancer to cigarette smoking is inconsistent in the literature, possibly due part heterogeneity carcinogen metabolism. N-acetyltransferase 2 (NAT2) enzyme activity believed play a role activation tobacco smoke carcinogens. We examined effect NAT2 genetic polymorphisms on risk from active and passive smoking. Women were recruited those who had suspicious masses detected clinically and/or mammographically. Questionnaire data collected prior biopsy diagnosis blind...
Pathogenic variants (PVs) in multiple genes are known to increase the risk of early-onset renal cancer (eoRC). However, many eoRC patients lack PVs RC-specific genes; thus, their genetic remains undefined. Here, we determine if DNA damage response and repair (DDRR) enriched undergoing assessment. Retrospective review de-identified results from 844 patients, testing with a multi-gene panel, for variety indications, by Ambry Genetics. cancer-risk were identified 12.8% patients-with 3.7%...
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity 85 in/near 3. Bioinformatically predicted spliceogenic underwent mRNA analysis using minigenes and/or patient samples. was measured quantitative analysis. A mouse embryonic stem cell (mESC) based assay determine the impact 18 on and protein function. For each variant, population...
Family cancer history is an important component of genetic testing guidelines that estimate which patients with breast are most likely to carry a germline pathogenic variant (PV). However, we do not know whether more extensive family differentially associated PVs in specific genes.All women diagnosed 2013-2017 and reported statewide SEER registries Georgia California were linked clinical results from two laboratories. was defined as strong (suggestive high-penetrance genes such BRCA1/2 or...
Abstract PURPOSE Variants of uncertain significance (VUS) are a common result diagnostic genetic testing and can be difficult to manage with potential misinterpretation downstream costs, including time investment by clinicians. We investigated the rate VUS reported on via multi-gene panels (MGPs) exome genome sequencing (ES/GS) measure magnitude results explore ways reduce their potentially detrimental impact. METHODS Rates inconclusive due were collected from over 1.5 million test 19...
Abstract Background Developing an effective approach to the identification of individuals at increased cancer risk is key preventing and/or providing early diagnosis cancer. However, outside targeted genetics clinics, under with hereditary well recognized, due in part ever evolving complexity germline genetic testing criteria and lack systematic framework perform robust assessment on all patients. In contrast, breast imaging centers are ideally positioned maximize impact positive test...
10500 Background: Germline genetic testing is increasingly essential for cancer prevention and treatment. There a growing call universal germline after diagnosis. In this evolving context, little known about use results across types at the population level. Methods: All patients aged ≥20 years, diagnosed with any type reported to statewide Surveillance Epidemiology End Results (SEER) registries in Georgia California from 2013-2019, were linked 2013-2021 four laboratories providing nearly all...
10622 Background: Access to genetic testing and risk stratification is primarily gated by referrals from non-genetics providers for patients who meet criteria. The majority of Americans seek care at community hospitals that are closer home; faced with the challenge how democratize access precision oncology cancer prevention. Research has shown establishment such protocols challenging, requiring organizational buy-in, capital, resources, involvement multiple levels clinical nonclinical...