scholarly journals PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic

2016 ◽  
Vol 29 (Suppl 1) ◽  
pp. S31-S34 ◽  
Author(s):  
Markéta Janatová ◽  
Marianna Borecká ◽  
Jana Soukupová ◽  
Petra Kleiblová ◽  
Jana Stříbrná ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Czech Republic ◽  
Genetic Testing ◽  
Candidate Gene ◽  
Hereditary Breast Cancer

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

scholarly journals NGS-Based BRCA1, BRCA2, and PALB2 Mutation Testing in Iranian Population With Breast Cancer

2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 208s-208s ◽  
Author(s):  
E. Ebrahimi ◽  
E. Sellars ◽  
R. Shirkoohi ◽  
I. Harirchi ◽  
R. Ghiasvand ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Hereditary Breast Cancer ◽  
Cancer Susceptibility ◽  
Age At Onset ◽  
Iranian Population ◽  
Breast Cancer Patients ◽  
Risk Criteria

Background: Identification of individuals who have a pathogenic mutation in breast cancer susceptibility genes is an important step to take advantage of genetic counseling, screening, and potentially life-saving prevention strategies. Based on the National Comprehensive Cancer Network (NCCN) guideline, genetic testing is deemed suitable for breast cancer patients with young age at onset, positive family history of cancers, male breast cancer, or diagnosis with a multifocal or triple negative breast cancer. Aim: Since, it is not known what proportion of breast cancers in Iran is hereditary and related to mutations in BRCA1/2 and PALB2 genes, therefore, we screened these 3 genes in multiethnic Iranian population to determine the spectrum of the breast cancer susceptibility gene mutations and to further assess the predictive value of the hereditary breast cancer risk criteria for genetic testing. Methods: Next generation sequencing (NGS) was conducted on a population consisted of 299 and 125 breast cancer patients, with and without hereditary cancer risk criteria for genetic testing, respectively. Results: Pathogenic mutation rate was 10.36% in patients with hereditary criteria for breast cancer vs 1.6% in no criteria group ( P = 0.002). All the patients who only met the young age at onset (<40) criterion tested negative for a gene mutation. This is while patients who had only 1 hereditary criterion (OR: 5.48, 95% CI: 1.09, 52.90, P = 0.017) and patients with multiple hereditary criteria (OR: 22.5, 95% CI: 5.19, 201.31, P < 0.0001) had a significantly higher probability of finding a mutation compared with no risk-criteria group. Conclusion: The first application of NGS on Iranian breast cancer population added to the cumulative evidence that BRCA1/2 mutations are seen commonly among Iranian breast cancer patients especially those with hereditary breast cancer criteria and indicated that PALB2 should be concerned in hereditary breast cancer screening alongside BRCA1/2. Investigating the predictive potential of hereditary breast cancer risk criteria our results suggest that offering genetic testing to women with early age at onset of <40 with no other hereditary criteria, may not be cost effective and should be considered for optimization of genetic counseling and genetic testing of the Iranian population.

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