z-logo
open-access-imgOpen Access
Japanese nationwide observational multicenter study of tumor BRCA1 / 2 variant testing in advanced ovarian cancer
Author(s) -
Oda Katsutoshi,
Aoki Daisuke,
Tsuda Hitoshi,
Nishihara Hiroshi,
Aoyama Hisanori,
Inomata Hyoe,
Shimada Muneaki,
Enomoto Takayuki
Publication year - 2023
Publication title -
cancer science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.035
H-Index - 141
eISSN - 1349-7006
pISSN - 1347-9032
DOI - 10.1111/cas.15518
Subject(s) - ovarian cancer , medicine , oncology , cancer , germline , observational study , genetic testing , germline mutation , mutation , gene , genetics , biology
The association between germline BRCA1 and BRCA2 pathogenic variants (mutations: g BRCA m) and ovarian cancer risk is well established. Germline testing alone cannot detect somatic BRCA1/2 pathogenic variants (s BRCA m), which is calculated based on the proportion of tumor BRCA m (t BRCA m) from tumor samples and g BRCA m. Homologous recombination deficiency (HRD) results mainly from genetic/epigenetic alterations in homologous recombination repair‐related genes and can be evaluated by genomic instability status. In Japan, the prevalence of t BRCA m, s BRCA m, and HRD remains unclear. This multicenter, cross‐sectional, observational study, CHaRacterIzing the croSs‐secTional approach to invEstigate the prevaLence of tissue BRCA1/2 mutations in newLy diagnosEd advanced ovarian cancer patients (CHRISTELLE), evaluated the prevalence of t BRCA m, s BRCA m, and HRD in tumor specimens from newly diagnosed patients with ovarian cancer who underwent g BRCA testing. Of the 205 patients analyzed, 26.8% had a t BRCA m, including t BRCA1 m (17.6%) and t BRCA2 m (9.3%). The overall prevalence of t BRCA m, g BRCA m, s BRCA m, and HRD‐positive status was 26.8%, 21.5%, 6.3%, and 60.0%, respectively. The calculated s BRCA m/t BRCA m ratio was 23.6% (13/55), and the prevalence of g BRCA variant of uncertain significance was 3.9%. These results suggest g BRCA testing alone cannot clearly identify the best course of treatment, highlighting the importance of s BRCA testing in Japan. The present results also suggest that testing for t BRCA and HRD should be encouraged in advanced ovarian cancer patients to drive precision medicine.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.
Having issues? You can contact us here