scholarly journals Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine

2020 ◽  
Vol Volume 13 ◽  
pp. 405-414
Author(s):  
Guang-dan Zhu ◽  
Eric Dawson ◽  
Angela Huskey ◽  
Ronald J Gordon ◽  
Andria L Del Tredici
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Neuromuscular Blockade ◽  
Patients At Risk ◽  
Prolonged Neuromuscular Blockade

Attitudes Toward Genetic Testing in Patients At Risk for HNPCC/FAP and the German Population

2002 ◽  
Vol 6 (4) ◽  
pp. 273-280 ◽  
Author(s):  
Hendrik Berth ◽  
Friedrich Balck ◽  
Andreas Dinkel
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
German Population ◽  
Patients At Risk

Benefits and safety of multigene panel testing in patients at risk for hereditary breast cancer.

2015 ◽  
Vol 33 (28_suppl) ◽  
pp. 16-16
Author(s):  
Nimmi S. Kapoor ◽  
Lisa D. Curcio ◽  
Carlee A. Blakemore ◽  
Amy K. Bremner ◽  
Rachel E. McFarland ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Genetic Testing ◽  
Hereditary Breast Cancer ◽  
Diagnostic Yield ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Testing ◽  
Gene Panel Testing ◽  
Patients At Risk

16 Background: Recently introduced multi-gene panel testing including BRCA1 and BRCA2 genes (BRCA1/2) for hereditary cancer risk has raised concerns with the ability to detect all deleterious BRCA1/2 mutations compared to older methods of sequentially testing BRCA1/2 separately. The purpose of this study is to evaluate rates of pathogenic BRCA1/2mutations and variants of uncertain significance (VUS) between previous restricted algorithms of genetic testing and newer approaches of multi-gene testing. Methods: Data was collected retrospectively from 966 patients who underwent genetic testing at one of three sites from a single institution. Test results were compared between patients who underwent BRCA1/2testing only (limited group, n = 629) to those who underwent multi-gene testing with 5-43 cancer-related genes (panel group, n = 337). Results: Deleterious BRCA1/2 mutations were identified in 37 patients, with equivalent rates between limited and panel groups (4.0% vs 3.6%, respectively, p = 0.86). Thirty-nine patients had a BRCA1/2 VUS, with similar rates between limited and panel groups (4.5% vs 3.3%, respectively, p = 0.49). On multivariate analysis, there was no difference in detection of either BRCA1/2 mutations or VUS between both groups. Of patients undergoing panel testing, an additional 3.9% (n = 13) had non-BRCA pathogenic mutations and 13.4% (n = 45) had non-BRCA VUSs. Mutations in PALB2, CHEK2, and ATM were the most common non-BRCA mutations identified. Conclusions: Multi-gene panel testing detects pathogenic BRCA1/2 mutations at equivalent rates as limited testing and increases the diagnostic yield. Panel testing increases the VUS rate, mainly due to non-BRCA genes. Patients at risk for hereditary breast cancer can safely benefit from upfront, more efficient, multi-gene panel testing.

Direct genetic testing for Smad4 mutations in patients at risk for juvenile polyposis

Surgery ◽  
1999 ◽  
Vol 126 (2) ◽  
pp. 162-170 ◽  
Author(s):  
James R. Howe ◽  
John C. Ringold ◽  
Jonathan H. Hughes ◽  
Robert W. Summers
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Juvenile Polyposis ◽  
Patients At Risk

scholarly journals Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer

2018 ◽  
Vol 28 (1) ◽  
pp. 26-33 ◽  
Author(s):  
J. Brian Szender ◽  
Jasmine Kaur ◽  
Katherine Clayback ◽  
Mollie L. Hutton ◽  
June Mikkelson ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Confidence Interval ◽  
Categorical Variables ◽  
Breast And Ovarian Cancer ◽  
Clinical Genetic ◽  
Patients At Risk ◽  
The Impact

ObjectiveThe aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued.MethodsA single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories. Patients meeting guidelines for testing were offered testing at 3 levels: single gene/condition (Single), small panels with highly penetrant genes (Plus), and large panels with high and moderately penetrant genes (Next). Associations between personal or family-related factors and breadth of testing selected were investigated. Continuous and categorical variables were compared using Student t and χ2 tests, as appropriate. Joint classification tables were used to test for effect modification, and a log-binomial model was used to compute rate ratios (RR) with a threshold of P < 0.05 considered significant.ResultsWe identified 253 patients who underwent genetic counseling for HBOC syndrome. Most patients were personally affected by cancer (63.6%), reported at least some college (79.2%), met the National Comprehensive Cancer Network guidelines for BRCA testing (94.5%), and opted to undergo genetic testing (94.1%). Most (84.9%) patients opted for panel testing. An increased likelihood of choosing Next-level testing was found to be associated with patients having any college experience (RR, 1.53; 95% confidence interval, 1.02–2.30), as well as being unaffected by cancer (RR, 1.30; 95% confidence interval, 1.03–1.64).ConclusionsClinical genetic counseling is a highly specialized service, which should be provided to patients at risk of hereditary cancer syndromes. Although some epidemiologic factors can predict a patient's preference for testing breadth, patients were sufficiently able to self-identify the level of testing they were comfortable with after receiving genetic counseling. Most practitioners do not have the time or expertise to provide the degree of counseling needed to enable and empower patients to choose the level of testing they are comfortable with. When available, referral to genetic counselors remains an important component of comprehensive care for women with a personal or family history of cancer suggestive of hereditary risk.

1678: Identifying Patients at Risk for Benign Versus Life Shortening Postoperative Prostate-Specific Antigen Failure

2005 ◽  
Vol 173 (4S) ◽  
pp. 455-455
Author(s):  
Anthony V. D’Amico ◽  
Ming-Hui Chen ◽  
Kimberly A. Roehl ◽  
William J. Catalona
Keyword(s):  
At Risk ◽  
Prostate Specific Antigen ◽  
Specific Antigen ◽  
Patients At Risk
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