scholarly journals Multigene panel testing for hereditary breast cancer: An analysis of 70 BRCA-negative Turkish patients

2019 ◽  
Author(s):  
Haktan Bağış Erdem ◽  
Taha Bahsi
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Turkish Patients ◽  
Brca Negative ◽  
Multigene Panel

scholarly journals “Decoding hereditary breast cancer” benefits and questions from multigene panel testing

The Breast ◽  
2019 ◽  
Vol 45 ◽  
pp. 29-35 ◽  
Author(s):  
Chrystelle Colas ◽  
Lisa Golmard ◽  
Antoine de Pauw ◽  
Sandrine M. Caputo ◽  
Dominique Stoppa-Lyonnet
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families

2017 ◽  
Vol 9 (1) ◽  
pp. 81-92 ◽  
Author(s):  
Belinda Vicuña ◽  
Harold D. Delaney ◽  
Kristina G. Flores ◽  
Lori Ballinger ◽  
Melanie Royce ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Hereditary Breast Cancer ◽  
Ethnically Diverse ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience

Cureus ◽  
2021 ◽  
Author(s):  
Kit Lu ◽  
Meagan Smith ◽  
Tejaswi Kanderi ◽  
Julia Verbiar ◽  
Jennifer Laspe, ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Variation ◽  
Hereditary Breast Cancer ◽  
Single Institution ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene panel testing results for hereditary breast cancer in 1325 individuals: Implications for gene selection and considerations for guidelines

2019 ◽  
Vol 30 ◽  
pp. v36
Author(s):  
G.N. Tsaousis ◽  
N. Tsoulos ◽  
E. Papadopoulou ◽  
K. Agiannitopoulos ◽  
G. Pepe ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Gene Selection ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

2017 ◽  
Vol 35 (22) ◽  
pp. 2568-2575 ◽  
Author(s):  
Carin R. Espenschied ◽  
Holly LaDuca ◽  
Shuwei Li ◽  
Rachel McFarland ◽  
Chia-Ling Gau ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Population Based ◽  
Brca1 And Brca2 ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
New Perspective ◽  
Testing Criteria ◽  
Multigene Panel

Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies. Methods We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N = 34,981) and performed a series of statistical comparisons. Results Overall, MSH6 mutations were most frequent, followed by PMS2, MSH2, MLH1, and EPCAM mutations, respectively. Of 528 patients who had MMR mutations, 63 (11.9%) had breast cancer only and 144 (27.3%) had CRC only. When comparing those with breast cancer only to those with CRC only, MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations ( P = 2.3 × 10−5). Of the 528 patients, 22.2% met BRCA1 and BRCA2 ( BRCA1/2) testing criteria and not LS criteria, and 5.1% met neither BRCA1/2 nor LS testing criteria. MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations among patients who met BRCA1/2 testing criteria but did not meet LS testing criteria ( P = 4.3 × 10−7). Conclusion These results provide a new perspective on LS and suggest that individuals with MSH6 and PMS2 mutations may present with a hereditary breast and ovarian cancer phenotype. These data also highlight the limitations of current testing criteria in identifying these patients, as well as the need for further investigation of cancer risks in patients with MMR mutations.

scholarly journals Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer

2020 ◽  
Vol 22 (5) ◽  
pp. 840-846 ◽  
Author(s):  
Dana Farengo Clark ◽  
Scott T. Michalski ◽  
Rashmi Tondon ◽  
Bita Nehoray ◽  
Jessica Ebrahimzadeh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Loss Of Function ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel
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