English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

The prevalence of germline BRCA1 or BRCA2 pathogenic variants (g BRCA1/2 -PV) in patients with primary epithelial ovarian cancer (OC) in a rural area of Japan and their association with clinical characteristics, including treatment response and survival outcome, were investigated. A total of 123 unbiased patients with OC were tested for g BRCA1 and g BRCA2 using next-generation sequencing-based targeted amplicon sequencing. Clinical characteristics of OC patients with and without g BRCA1/2 status were compared. The overall prevalence of g BRCA1/2 -PV was 15.4% (19 cases), with g BRCA2 -PV (10.5%, 13 cases) being more common than g BRCA1 -PV (4.9%, 6 cases). Among the observed g BRCA1/2 -PV, several novel variants were included, suggesting that g BRCA1/2 -PV unique to the local area exist. g BRCA1/2 -PV was significantly more prevalent in OC patients at an older age, with high-grade serous carcinoma, with advanced-stage tumors, and with a family history of breast cancer or hereditary breast and ovarian cancer syndrome (HBOC)-associated cancers. Patients with advanced-stage OC with g BRCA1/2 -PV showed a significantly lower recurrence rate and tended to have better progression-free and overall survival than those with wild-type g BRCA1/2 . Genetic testing for g BRCA1/2 status in all OC patients is useful not only for diagnosing HBOC in patients and their relatives to assess the risk of HBOC-associated cancers, but also to estimate therapy response and outcomes in patients.

genes

Prevalence of Pathogenic Germline BRCA1/2 Variants and Their Association with Clinical Characteristics in Patients with Epithelial Ovarian Cancer in a Rural Area of Japan