Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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
Oncologist-led germline genetic testing for uveal melanoma
Sign Up to like & getrecommendations! 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
Germline genetics in localized prostate cancer.
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Urology"
DOI: 10.1097/mou.0000000000000648
Abstract: PURPOSE OF REVIEW To provide the reader an understanding of the importance and limitations of prostate cancer (PCa) screening, the heritable component of PCa and the role that germline genetic markers can play in risk-adapted… read more here.
Keywords: germline; pca; germline genetic; prostate cancer ... See more keywords
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical endocrinology"
DOI: 10.1111/cen.14639
Abstract: OBJECTIVES Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with malignant potential and a hereditary basis in almost 40% of patients. Germline genetic testing has transformed the management of PPGL enabling stratification of surveillance approaches,… read more here.
Keywords: germline genetic; somatic sequencing; large cohort; cohort ... See more keywords
Germline genetic variants with implications for disease risk and therapeutic outcomes.
Sign Up to like & getrecommendations! Published in 2017 at "Physiological genomics"
DOI: 10.1152/physiolgenomics.00035.2017
Abstract: Genetic testing has multiple clinical applications including disease risk assessment, diagnosis, and pharmacogenomics. Pharmacogenomics can be utilized to predict whether a pharmacologic therapy will be effective or to identify patients at risk for treatment-related toxicity.… read more here.
Keywords: genetic variants; implications disease; germline genetic; disease risk ... See more keywords
Abstract P3-08-05: The yield of germline genetic testing in breast cancer patients diagnosed prior to age 50
Sign Up to like & getrecommendations! Published in 2017 at "Cancer Research"
DOI: 10.1158/1538-7445.sabcs16-p3-08-05
Abstract: Young breast cancer (BC) patients are more likely to carry a mutation in a cancer predisposition gene than women diagnosed later in life. Historically young BC patients were eligible for BRCA1/2 genetic testing, but now… read more here.
Keywords: genetic testing; age; breast cancer; cancer ... See more keywords