Hereditary breast cancer syndromes and genetic testing

2014 ◽  
Vol 111 (1) ◽  
pp. 66-80 ◽  
Author(s):  
Thereasa A. Rich ◽  
Ashley H. Woodson ◽  
Jennifer Litton ◽  
Banu Arun
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Hereditary Breast Cancer ◽  
Cancer Syndromes

Facilitating decision-making in women undergoing genetic testing for hereditary breast cancer: BRECONDA randomized controlled trial results

The Breast ◽  
2017 ◽  
Vol 36 ◽  
pp. 79-85 ◽  
Author(s):  
Kerry A. Sherman ◽  
Christopher J. Kilby ◽  
Laura-Kate Shaw ◽  
Caleb Winch ◽  
Judy Kirk ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Randomized Controlled Trial ◽  
Genetic Testing ◽  
Hereditary Breast Cancer ◽  
Controlled Trial ◽  
Randomized Controlled

Genetic testing for hereditary breast cancer: The decision to decline.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 1552-1552 ◽  
Author(s):  
Brook White ◽  
Kimberly Showers ◽  
Carolyn S. Menendez ◽  
Lisa Amacker-North ◽  
Kendall W. Carpenter ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Hereditary Breast Cancer

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.

scholarly journals Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany

2011 ◽  
Vol 2 (2) ◽  
pp. 53-69 ◽  
Author(s):  
Dorothea Gadzicki ◽  
D. Gareth Evans ◽  
Hilary Harris ◽  
Claire Julian-Reynier ◽  
Irmgard Nippert ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
The Netherlands ◽  
Hereditary Breast Cancer ◽  
The Uk ◽  
Guidelines And Recommendations
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