scholarly journals Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

2018 ◽  
Vol 7 (4) ◽  
pp. 1349-1358 ◽  
Author(s):  
Jan Hauke ◽  
Judit Horvath ◽  
Eva Groß ◽  
Andrea Gehrig ◽  
Ellen Honisch ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Gene Panel ◽  
Negative Index ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Diagnostic Setting

Clinical impact of multi-gene panel testing for hereditary breast and ovarian cancer risk assessment.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 1513-1513
Author(s):  
Leif W. Ellisen ◽  
Allison W. Kurian ◽  
Andrea J Desmond ◽  
Meredith Mills ◽  
Stephen E Lincoln ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Risk Assessment ◽  
Cancer Risk ◽  
Clinical Impact ◽  
Gene Panel ◽  
Cancer Risk Assessment ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Gene-panel testing of breast and ovarian cancer patients identifies a recurrentRAD51Cduplication

2018 ◽  
Vol 93 (3) ◽  
pp. 595-602 ◽  
Author(s):  
L.M. Pelttari ◽  
H. Shimelis ◽  
H. Toiminen ◽  
A. Kvist ◽  
T. Törngren ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Gene Panel ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Multi-gene panel testing at the hereditary breast and ovarian cancer (HBOC) unit of the Hospital Clinic of Barcelona

2019 ◽  
Vol 30 ◽  
pp. iii42-iii43
Author(s):  
B. Adamo ◽  
L. Moreno ◽  
L. Gaba ◽  
M. Vidal ◽  
T. Pascual ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Gene Panel ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Hospital Clinic

scholarly journals Extended gene panel testing in lobular breast cancer

2021 ◽  
Author(s):  
Elke M. van Veen ◽  
D. Gareth Evans ◽  
Elaine F. Harkness ◽  
Helen J. Byers ◽  
Jamie M. Ellingford ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Detection Rate ◽  
Gene Panel ◽  
Lobular Breast Cancer ◽  
Germline Variants ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing ◽  
Increased Risk

AbstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53.Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83–66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58–23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52–29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

scholarly journals The Cost-Effectiveness of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer in Norway

2019 ◽  
Vol 4 (1) ◽  
pp. 238146831882110 ◽  
Author(s):  
Lars Asphaug ◽  
Hans Olav Melberg
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cost Effectiveness ◽  
Gene Panel ◽  
Breast Cancer Patients ◽  
Brca Testing ◽  
Early Onset Breast Cancer ◽  
Breast And Ovarian Cancer ◽  
Quality Adjusted Life ◽  
Multigene Panel

Background. Expansion of routine genetic testing for hereditary breast and ovarian cancer from conventional BRCA testing to a multigene test could improve diagnostic yield and increase the opportunity for cancer prevention in both identified carriers and their relatives. We use an economic decision model to assess whether the current knowledge on non- BRCA mutation prevalence, cancer risk, and patient preferences justifies switching to a multigene panel for testing of early-onset breast cancer patients. Methods. We evaluated routine testing by BRCA testing, a 7-gene panel, and a 14-gene panel using individual-level simulations of annual health state transitions over a lifetime perspective. Breast and ovarian cancer incidence is reduced and posttreatment survival is improved when high-risk mutations are detected and risk-reducing treatment offered. Most model inputs were synthesized from published literature. Intermediate health outcomes included breast and ovarian cancer incidence rates, along with organ-specific cancer mortality. Cost-effectiveness outcomes were health sector costs and quality-adjusted life years. Results. Intermediate health outcomes improved by testing with multigene panels. At a cost-effectiveness threshold of $77,000, a 7-gene panel test with five non- BRCA genes was the optimal strategy with an incremental cost-effectiveness ratio of $53,310 per quality-adjusted life year compared to BRCA-only testing. Limitations. Unable to stratify carriers to specific mutations within genes, we can only make predictions on the gene level, with combined risk estimates for known variants. As mutation prevalence is the absolute upper bound of returns to more expansive testing, the rarity of modelled mutations makes analysis outcomes sensitive to model implementation. Conclusions. A 7-gene panel to diagnose hereditary breast and ovarian cancer in early-onset breast cancer patients can be a cost-effective alternative to current BRCA-only testing in Norway.

scholarly journals 167P Role of the multi-gene panel testing for detection of pathogenic variants in patients with hereditary bilateral breast cancer

2021 ◽  
Vol 32 ◽  
pp. S432-S433
Author(s):  
C. Filorizzo ◽  
D. Fanale ◽  
L. Incorvaia ◽  
N. Barraco ◽  
M. Bono ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Bilateral Breast Cancer ◽  
Gene Panel ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing

scholarly journals Multi gene panel testing for hereditary breast cancer - is it ready to be used?

2019 ◽  
Author(s):  
Andreea Catana ◽  
Adina Patricia Apostu ◽  
Razvan-Geo Antemie
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Gene Panel ◽  
Variants Of Uncertain Significance ◽  
Panel Testing ◽  
Brca Genes ◽  
Prophylactic Measures ◽  
Gene Panel Testing ◽  
Uncertain Significance ◽  
High Level

Breast cancer is one of the most common malignancies and the leading cause of death among women worldwide. About 20% of breast cancers are hereditary. Approximately 30% of the mutations have remained negative after testing BRCA1/2 even in families with a Mendelian inheritance pattern for breast cancer. Additional non-BRCA genes have been identified as predisposing for breast cancer. Multi gene panel testing tries to cover and explain the BRCA negative inherited breast cancer, improving efficiency, speed and costs of the breast cancer screening. We identified 23 studies reporting results from individuals who have undergone multi gene panel testing for hereditary breast cancer and noticed a prevalence of 1-12% of non-BRCA genes, but also a high level of variants of uncertain significance. A result with a high level of variants of uncertain significance is likely to be more costly than bring benefits, as well as increase the anxiety for patients. Regarding further development of multi gene panel testing, more research is required to establish both the optimal care of patients with cancer (specific treatments like PARP inhibitors) and the management of unaffected individuals (chemoprevention and/or prophylactic surgeries). Early detection in these patients as well as prophylactic measures will significantly increase the chance of survival. Therefore, multi gene panel testing is not yet ready to be used outside clear guidelines. In conclusion, studies on additional cohorts will be needed to better define the real prevalence, penetrance and the variants of these genes, as well as to describe clear evidence-based guidelines for these patients. 

Abstract 3406: Hereditary risks of male breast cancer in a multi-gene panel testing cohort

2017 ◽  
Author(s):  
Elizabeth C. Chao ◽  
Mary Pritzlaff ◽  
Summerour Pia ◽  
Rachel McFarland ◽  
Shuwei Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Gene Panel ◽  
Male Breast ◽  
Panel Testing ◽  
Gene Panel Testing
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