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   Articles with "germline genetic" as a keyword



Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer

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recommendations! Published in 2022 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2022.38167

Abstract: Key Points Question Do patients with colorectal cancer (CRC) receive microsatellite instability and/or immunohistochemistry (MSI/IHC) tumor screening and germline genetic testing (GGT) when they have insurance that covers these tests? Findings In a cohort study… read more here.

Keywords: patients colorectal; universal testing; germline genetic; genetic testing ... See more keywords

Characterization of Oncology Clinical Trials Using Germline Genetic Data

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recommendations! Published in 2022 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2022.42370

Abstract: This cross-sectional study evaluates the features of oncology clinical trials that use germline genetic data. read more here.

Keywords: oncology; genetic data; oncology clinical; germline genetic ... See more keywords

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma

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recommendations! Published in 2024 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2024.4170

Abstract: Key Points Question What is the association of germline cancer-predisposition variants (CPVs) with outcomes among children with rhabdomyosarcoma? Findings In this cohort study of 580 individuals aged 0.01-23.23 years with rhabdomyosarcoma, those with CPVs in… read more here.

Keywords: among children; outcomes among; children rhabdomyosarcoma; germline genetic ... See more keywords

Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing

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recommendations! Published in 2019 at "Clinical Pharmacology and Therapeutics"

DOI: 10.1002/cpt.1489

Abstract: Pre‐emptive pharmacogenetics (PGx) testing of a panel of germline genetic variants represents a new model for personalized medicine. Clinical impact of PGx testing is maximized when all variant alleles for which actionable clinical guidelines are… read more here.

Keywords: panel; pgx passport; pre emptive; germline genetic ... See more keywords

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

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recommendations! Published in 2022 at "Human mutation"

DOI: 10.1002/humu.24374

Abstract: To avoid acquired variants found in the blood, cultured skin fibroblasts are a recommended DNA source for germline genetic testing in patients with hematologic disorders, but data are lacking regarding practicality and limitations. We conducted… read more here.

Keywords: genetic testing; germline genetic; skin fibroblasts; cultured skin ... See more keywords

Electronic medical record documentation of germline genetic evaluations in patients with ovarian cancer.

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recommendations! Published in 2023 at "Journal of genetic counseling"

DOI: 10.1002/jgc4.1731

Abstract: Germline genetic evaluation is indicated for all patients with epithelial ovarian cancer (EOC). For testing to have clinical utility, results must be documented within the electronic medical record (EMR) and accessible to providers at the… read more here.

Keywords: germline genetic; ovarian cancer; genetic testing; electronic medical ... See more keywords

Germline genetic contribution to the immune landscape of cancer.

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recommendations! Published in 2021 at "Immunity"

DOI: 10.1016/j.immuni.2021.01.011

Abstract: Understanding the contribution of the host's genetic background to cancer immunity may lead to improved stratification for immunotherapy and to the identification of novel therapeutic targets. We investigated the effect of common and rare germline… read more here.

Keywords: genetic contribution; contribution immune; contribution; cancer ... See more keywords

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

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recommendations! Published in 2024 at "British Journal of Cancer"

DOI: 10.1038/s41416-024-02832-2

Abstract: Genetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is increasingly part of the breast cancer diagnostic pathway. Novel patient-centred pathways may offer opportunity to expand capacity and reduce turnaround time.… read more here.

Keywords: oncology; breast; brca direct; germline genetic ... See more keywords

Regulating the use of germline genetic engineering on humans

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recommendations! Published in 2025 at "South African Journal of Philosophy"

DOI: 10.1080/02580136.2025.2582107

Abstract: Germline genetic engineering (GGE) technologies enable us to modify the genetic material of organisms, including humans. Since using GGE on humans comes with major possible harms, its development and use should be regulated. How should… read more here.

Keywords: use; case; germline genetic; genetic engineering ... See more keywords

Oncologist-led germline genetic testing for uveal melanoma

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recommendations! Published in 2023 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2023.2191707

Abstract: ABSTRACT Purpose To report the genotype and phenotype of a cohort of unselected uveal melanoma (UM) patients who had germline multi-gene panel genetic testing, including the BAP1 gene, from a large multi-ethnic cancer centre. We… read more here.

Keywords: unselected patients; germline genetic; genetic testing; germline bap1 ... See more keywords

METB-13. GERMLINE GENETIC TESTING IN CHILDREN WITH CNS TUMORS; FIRST-EVER EXPERIENCE FROM JORDAN

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recommendations! Published in 2024 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noae064.254

Abstract: Abstract BACKGROUND It is expected that 10-15% of children with CNS tumors have an underlying cancer predisposition syndrome (CPS). This has important implications on treatment, cancer screening and family counseling. There is no published data… read more here.

Keywords: cns tumors; cancer; children cns; jordan ... See more keywords