Articles with "multi gene" as a keyword



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Multi-gene Panel Testing in Breast Cancer Management.

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Published in 2018 at "Cancer treatment and research"

DOI: 10.1007/978-3-319-70197-4_8

Abstract: Hereditary predisposition accounts for approximately 10% of all breast cancers and is mostly associated with germline mutations in high-penetrance genes encoding for proteins participating in DNA repair through homologous recombination (BRCA1 and BRCA2). With the… read more here.

Keywords: multi gene; panel testing; cancer; gene ... See more keywords
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Multi-gene phylogeny of Tetrahymena refreshed with three new histophagous species invading freshwater planarians

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Published in 2020 at "Parasitology Research"

DOI: 10.1007/s00436-020-06628-0

Abstract: Planarians represent an insufficiently explored group of aquatic invertebrates that might serve as hosts of histophagous ciliates belonging to the hymenostome genus Tetrahymena. During our extensive research on freshwater planarians, parasitic tetrahymenas were detected in… read more here.

Keywords: freshwater; multi gene; freshwater planarians; phylogeny tetrahymena ... See more keywords
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Estimating risk using multi-gene panel testing; do negative results change the risk?

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Published in 2017 at "Journal of Human Genetics"

DOI: 10.1038/jhg.2016.125

Abstract: Recently, Mannan et al.1 reported that multi-gene panel testing provided increased sensitivity for detection of pathogenic mutations, which characterize hereditary breast and/or ovarian cancer syndromes. I think it is important to recognize that while enormous… read more here.

Keywords: multi gene; risk; gene panel; panel testing ... See more keywords
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Economic evaluation of a pharmacogenomic multi-gene panel test to optimize anti-hypertension therapy: simulation study

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Published in 2018 at "Journal of Medical Economics"

DOI: 10.1080/13696998.2018.1531011

Abstract: Abstract Aims: Hypertension is the strongest modifiable risk factor for cardiovascular disease, affecting 80 million individuals in the US and responsible for ∼360,000 deaths, at total annual costs of $93.5 billion. Antihypertension therapies guided by… read more here.

Keywords: therapy; multi gene; hypertension; panel ... See more keywords
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DIPG-08. ELECTRONIC SEQUENCING PROVIDES OPTIMIZED QUANTIFICATION OF SERIAL, MULTI-GENE MOLECULAR RESPONSE IN THE CSF OF CHILDREN WITH HIGH-GRADE GLIOMA

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Published in 2020 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noaa222.059

Abstract: Abstract BACKGROUND For pediatric high-grade glioma (pHGG), non-invasive methods for diagnosis and surveillance are needed. Tumors release DNA (tDNA) into cerebrospinal fluid (CSF), allowing for detection of tumor-associated mutations by CSF sampling. We hypothesized that… read more here.

Keywords: glioma; high grade; grade glioma; multi gene ... See more keywords
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Multi-gene panel testing of patients with multiple primary malignancies suspected with hereditary cancer syndrome.

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Published in 2017 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2017.35.15_suppl.1512

Abstract: 1512Background: Developing multiple primary cancers is an indicator of underlying hereditary cancer predisposition, but there is a paucity of data regarding the characteristics and clinical genetic testing outcome of these patients. Methods: We compared cancer… read more here.

Keywords: multiple primary; hereditary cancer; multi gene; primary malignancies ... See more keywords
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Development and validation of a residual risk score to predict breast cancer risk in unaffected women negative for mutations on a multi-gene hereditary cancer panel.

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Published in 2017 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2017.35.15_suppl.1579

Abstract: 1579Background: Women who are unaffected with cancer but have a significant family history of breast cancer (BC) are frequently referred for hereditary cancer testing with multi-gene panels; however, < 10% test positive for clinically actionable… read more here.

Keywords: risk; negative mutations; hereditary cancer; multi gene ... See more keywords
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Family cancer patterns and variation by race and ethnicity among individuals with pathogenic variants in multi-gene cancer predisposition panels at a large urban comprehensive cancer center.

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Published in 2020 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2020.38.15_suppl.e13540

Abstract: e13540Background: The identification of pathogenic variants and variants of unknown significance (VUS) in multi-gene cancer predisposition testing raises new questions regarding cancer risk and man... read more here.

Keywords: pathogenic variants; gene cancer; multi gene; cancer predisposition ... See more keywords
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Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome

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Published in 2020 at "Annals of Laboratory Medicine"

DOI: 10.3343/alm.2020.40.2.148

Abstract: Background Hereditary breast and ovarian cancer syndrome (HBOC) is caused by pathogenic variants in BRCA and other cancer-related genes. We analyzed variants in BRCA gene and other cancer-related genes in HBOC patients to evaluate the… read more here.

Keywords: pathogenic variants; multi gene; panel testing; cancer ... See more keywords
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Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis

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Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1060504

Abstract: Introduction: A considerable number of families with pedigrees suggestive of a Mendelian form of Breast Cancer (BC), Ovarian Cancer (OC), or Pancreatic Cancer (PC) do not show detectable BRCA1/2 mutations after genetic testing. The use… read more here.

Keywords: hereditary cancer; multi gene; gene panel; gene ... See more keywords
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Taxonomy and multi-gene phylogeny of Micropsalliota (Agaricales, Agaricaceae) with description of six new species from China

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Published in 2022 at "Frontiers in Microbiology"

DOI: 10.3389/fmicb.2022.1011794

Abstract: Micropsalliota is a relatively small genus containing only 62 previously identified species. Here, we describe six new taxa of Micropsalliota based on morphological and phylogenetic analyses: M. minor, M. ovalispora, M. pseudodelicatula, M. rufosquarrosa, M.… read more here.

Keywords: micropsalliota; gene phylogeny; taxonomy multi; six new ... See more keywords