Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

2011 ◽  
Vol 33 (1) ◽  
pp. 95-99 ◽  
Author(s):  
Ella R. Thompson ◽  
Samantha E. Boyle ◽  
Julie Johnson ◽  
Georgina L. Ryland ◽  
Sarah Sawyer ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer ◽  
High Risk Breast

CHEK2 gene analysis in 1020 high-risk breast and ovarian cancer patients in the Czech Republic

2016 ◽  
Vol 61 ◽  
pp. S27
Author(s):  
L. Stolarova ◽  
P. Kleiblova ◽  
P. Zemankova ◽  
M. Janatova ◽  
M. Borecka ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
High Risk ◽  
Cancer Patients ◽  
Gene Analysis ◽  
Breast And Ovarian Cancer ◽  
The Czech Republic ◽  
Chek2 Gene ◽  
High Risk Breast

scholarly journals High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

2005 ◽  
Vol 7 (5) ◽  
Author(s):  
Petr Pohlreich ◽  
Michal Zikan ◽  
Jana Stribrna ◽  
Zdenek Kleibl ◽  
Marketa Janatova ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

2018 ◽  
Vol 172 (1) ◽  
pp. 151-157 ◽  
Author(s):  
Inbal Barnes-Kedar ◽  
Rinat Bernstein-Molho ◽  
Nava Ginzach ◽  
Shulamit Hartmajer ◽  
Tamar Shapira ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
High Risk Breast

scholarly journals Challenges in Interpreting Germline Mutations in BARD1 and ATM in Breast and Ovarian Cancer Patients

2017 ◽  
Vol 23 (4) ◽  
pp. 461-464 ◽  
Author(s):  
Kimberly DeLeonardis ◽  
Kristin Sedgwick ◽  
Olga Voznesensky ◽  
Ellen Matloff ◽  
Erin Hofstatter ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer

scholarly journals Evaluation of breast screening strategies in a high risk breast and ovarian cancer clinic

2020 ◽  
Vol 33 ◽  
pp. 100587
Author(s):  
Anne T. Knisely ◽  
Martha E. Stewart ◽  
Christine Garcia ◽  
Martha H. Thomas ◽  
Susan C. Modesitt ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Breast Screening ◽  
Breast And Ovarian Cancer ◽  
Screening Strategies ◽  
High Risk Breast ◽  
Cancer Clinic

Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families

2013 ◽  
Vol 40 (12) ◽  
pp. 6619-6623 ◽  
Author(s):  
Helena Rudnicka ◽  
Tadeusz Debniak ◽  
Cezary Cybulski ◽  
Tomasz Huzarski ◽  
Jacek Gronwald ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Genomic Rearrangements ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
High Risk Breast

scholarly journals Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility

Cancers ◽  
2018 ◽  
Vol 10 (10) ◽  
pp. 361 ◽  
Author(s):  
Rosalía Quezada Urban ◽  
Clara Díaz Velásquez ◽  
Rina Gitler ◽  
María Rojo Castillo ◽  
Max Sirota Toporek ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Cancer Susceptibility ◽  
High Risk Group ◽  
Cancer Genes ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Variants ◽  
Recurrent Mutations

Hereditary breast and ovarian cancer syndrome (HBOC) represents 5–10% of all patients with breast cancer and is associated with high-risk pathogenic alleles in BRCA1/2 genes, but only for 25% of cases. We aimed to find new pathogenic alleles in a panel of 143 cancer-predisposing genes in 300 Mexican cancer patients with suspicion of HBOC and 27 high-risk patients with a severe family history of cancer, using massive parallel sequencing. We found pathogenic variants in 23 genes, including BRCA1/2. In the group of cancer patients 15% (46/300) had a pathogenic variant; 11% (33/300) harbored variants with unknown clinical significance (VUS) and 74% (221/300) were negative. The high-risk group had 22% (6/27) of patients with pathogenic variants, 4% (1/27) had VUS and 74% (20/27) were negative. The most recurrent mutations were the Mexican founder deletion of exons 9-12 and the variant p.G228fs in BRCA1, each found in 5 of 17 patients with alterations in this gene. Rare VUS with potential impact at the protein level were found in 21 genes. Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in BRCA1/2 (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels.

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