scholarly journals Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer

2020 ◽  
Vol 111 (10) ◽  
pp. 3912-3925
Author(s):  
Jin‐Sun Ryu ◽  
Hye‐Young Lee ◽  
Eun Hae Cho ◽  
Kyong‐Ah Yoon ◽  
Min‐Kyeong Kim ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Hereditary Breast Ovarian Cancer ◽  
Panel Testing ◽  
Exon Splicing ◽  
Intronic Variants ◽  
Cancer Panel

scholarly journals Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families

2017 ◽  
Vol 7 (1) ◽  
pp. 46-55 ◽  
Author(s):  
Anna Coppa ◽  
Arianna Nicolussi ◽  
Sonia D'Inzeo ◽  
Carlo Capalbo ◽  
Francesca Belardinilli ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Hereditary Breast Ovarian Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Mike M. Moradian ◽  
Davit T. Babikyan ◽  
Sione Markarian ◽  
Jonny G. Petrosyan ◽  
Nare Avanesian ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Genes ◽  
Breast Cancer Patients ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
History Of ◽  
History Of Cancer ◽  
Cancer Panel

AbstractHereditary breast and ovarian cancer (HBOC) can be identified by genetic testing of cancer-causing genes. In this study, we identified a spectrum of genetic variations among 76 individuals of Armenian descent either with a family history of cancer or breast cancer before the age of 40. We screened 76 suspected HBOC patients and family members as well as four healthy controls using a targeted and hereditary comprehensive cancer panel (127 genes). We found 26 pathogenic (path) and 6 likely pathogenic (LPath)variants in 6 genes in 44 patients (58%); these variants were found in BRCA1 (17), BRCA2 (19), CHEK2 (4), PALB2 (2), and NBN (1). A few different variants were found in unrelated individuals; most notably, variant p.Trp1815Ter in the BRCA1 gene occurred in four unrelated patients. We did not find any known significant variants in five patients. Comprehensive cancer panel testing revealed pathogenic variants in cancer genes other than BRCA1 and BRCA2, suggesting that testing only BRCA1 and BRCA2 would have missed 8 out of 44 suspected HBOC patients (18%). These data also confirm that a comprehensive cancer panel testing approach could be an appropriate way to identify most of the variants associated with hereditary breast cancer.

scholarly journals Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer

2021 ◽  
Vol 20 ◽  
pp. 153303382110279
Author(s):  
Brooke E. Sanders ◽  
Lisa Ku ◽  
Paul Walker ◽  
Benjamin G. Bitler
Keyword(s):  
Ovarian Cancer ◽  
Genetic Variants ◽  
Mutant Allele ◽  
Serous Ovarian Cancer ◽  
Brca Testing ◽  
Panel Testing ◽  
University Of Colorado ◽  
Gene Panel Testing ◽  
The University ◽  
Tumor Profiling

The clinical use of molecular tumor profiling (MTP) is expanding and there is an increasing use of MTP data to manage patient care. At the University of Colorado, 18 patients were diagnosed with primary serous ovarian cancer between 9/2015 and 6/2019 and consented for banking and analysis of tumor, ascites and plasma. All 18 patients had tumor and plasma samples that were sent for MTP, and 13 of 18 patients additionally had ascites collected and sent for MTP. 50-gene panel testing and BRCA testing were performed on primary tumor. BRCA genetic variants were more likely to be identified in plasma as compared to ascites or tumor, though not statistically significant ( P = 0.17). Co-occurring genetic variants between plasma and ascites were less common in comparison to co-occurring variants between tumor and plasma or tumor and ascites, though not statistically significant ( P = 0.68). Variants in KDR (VEGFR2) and TP53 were most likely to be conserved across all 3 biocompartments. Mutant allele frequencies (MAF) of individual genetic variants varied across biocompartments, though tended to be highest in the tumor, followed by ascites.

scholarly journals The Prevalence of Ovarian Cancer in Korean Women at High-Risk for Hereditary Breast-Ovarian Cancer

2011 ◽  
Vol 14 (Suppl 1) ◽  
pp. S24
Author(s):  
Jihyoun Lee ◽  
Eunyoung Kang ◽  
Sung-Won Kim ◽  
Boyoung Park ◽  
Sue K. Park ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Korean Women ◽  
Hereditary Breast Ovarian Cancer

scholarly journals Prevalence of pathogenic mutations in Korean hereditary breast-ovarian cancer

2018 ◽  
Vol 29 ◽  
pp. ix116
Author(s):  
G. Lee ◽  
J.H. Kim ◽  
S.N. Lee ◽  
H. Chae ◽  
J. Yoo ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Hereditary Breast Ovarian Cancer ◽  
Pathogenic Mutations

scholarly journals 79 VUS VARIANTS IN BRCA GENES OF HEREDITARY BREAST/OVARIAN CANCER

2010 ◽  
Vol 36 ◽  
pp. S118-S119
Author(s):  
M. Perez ◽  
N. Margarese ◽  
V. Calò ◽  
L. Bruno ◽  
L. La Paglia ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Hereditary Breast Ovarian Cancer ◽  
Brca Genes

Development of a hereditary cancer panel testing for patients with triple negative breast cancer

The Breast ◽  
2019 ◽  
Vol 44 ◽  
pp. S36-S37
Author(s):  
H. Lee ◽  
K. Lee ◽  
J. Lee ◽  
K. Yoon ◽  
A.M. Mohammad ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Triple Negative Breast Cancer ◽  
Hereditary Cancer ◽  
Triple Negative ◽  
Panel Testing ◽  
Cancer Panel
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