Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria

2013 ◽  
Vol 85 (1) ◽  
pp. 72-75 ◽  
Author(s):  
CF Singer ◽  
D Muhr ◽  
C Rappaport ◽  
M-K Tea ◽  
D Gschwantler-Kaulich ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Implications ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations

2017 ◽  
Vol 28 ◽  
pp. vi71
Author(s):  
K. Tavella ◽  
A. Villanucci ◽  
L. Vannini ◽  
V. Rossi ◽  
B. Fantechi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Retrospective Analysis ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

BRCA1 and BRCA2 Genetic Testing in Hispanic Patients: Mutation Prevalence and Evaluation of the BRCAPRO Risk Assessment Model

2007 ◽  
Vol 25 (29) ◽  
pp. 4635-4641 ◽  
Author(s):  
Kristen J. Vogel ◽  
Deann P. Atchley ◽  
Julie Erlichman ◽  
Kristine R. Broglio ◽  
Kaylene J. Ready ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Mutation Frequency ◽  
Brca2 Mutation ◽  
Comprehensive Analysis ◽  
Assessment Model ◽  
Hispanic Population ◽  
Brca1 And Brca2 ◽  
Hispanic Patients ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

Purpose The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using mutation frequencies of white and Ashkenazi Jewish populations, and may not be applicable to other populations. BRCAPRO was recently validated in African Americans, although has yet to be examined in Hispanics. This retrospective study reports the mutation frequency and spectrum of BRCA1 and BRCA2 mutations in a Hispanic population and evaluates the BRCAPRO model in Hispanics. Patients and Methods A descriptive analysis of mutation frequency and spectrum was performed for Hispanic patients who underwent BRCA1 and BRCA2 genetic testing at a single institution. For comparative analysis of the BRCAPRO risk model, Hispanic patients who underwent comprehensive analysis were compared with white controls using area under the receiver operating characteristic curves (AUROC). Results Fourteen Hispanic individuals who underwent comprehensive analysis were identified to carry a mutation in BRCA1 or BRCA2 (17.9%; 95% CI, 10.2% to 28.3%) and seven individuals had a variant of uncertain significance (9.0%; 95% CI, 12.0% to 30.8%). A total of eight different mutations and three variants were observed within the entire Hispanic population. When evaluating the performance of the BRCAPRO model, the AUROC for Hispanics was 0.774 (95% CI, 0.63 to 0.90), compared with the AUROC of 0.770 (95% CI, 0.65 to 0.89) for whites. Conclusion Deleterious BRCA1 and BRCA2 mutations occur at considerable frequency within the Hispanic population, many of which have been identified previously in other ethnic populations. The BRCAPRO model appears to perform equally well in Hispanics as in whites.

scholarly journals Recommended Extension of Indication Criteria for Genetic Testing of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Syndrome

2016 ◽  
Vol 29 (Suppl 1) ◽  
pp. S9-S13 ◽  
Author(s):  
Lenka Foretová ◽  
Eva Macháčková ◽  
Markéta Palácová ◽  
Marie Navrátilová ◽  
Marek Svoboda ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations
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