Abstract 3162
Background
The prevalence of BRCA1 and BRCA2 mutations varies among individual racial and ethnic groups. While, molecular epidemiological data on Chinese ovarian cancer patients is still insufficient.
Methods
Here, we performed a multicenter study to investigate the clinical and molecular characteristics of 1,059 ovarian cancer patients. A hereditary cancer multigene panel including all NCCN recommended homologues recombination repair genes was performed.
Results
Totally, 1,059 patients with ovarian (n = 982, 92.7%), fallopian tube (n = 63, 5.9%) and peritoneal (n = 14, 1.3%) cancer were recruited from 18 medical centers in China. 314 of 1,059 patients carried deleterious germline aberration in HRR genes including BRCA1 (19.1%), BRCA2 (6.5%) and other HRR genes (4.1%). Another 15 patients carried abnormality in MMR pathway as well as genes of other familial cancer syndrome like MUTYH, STK11, TP53. Histologically, BRCA1/2 mutations, in our study, were enriched not only in HGSC, but also in HGSC (P < 0.001 for BRCA1, P = 0.05 for BRCA2), which was seldomly investigated. Patients with germline BRCA1 mutations associated with early-onset (age≤50 years, P < 0.001), higher chances of breast cancer (P < 0.001), family history of HBOC (P < 0.001) and relapse after initial treatment (P = 0.068). Recurrent patients harbored more deleterious mutations than primary patients although the differences reached no significance in patients with HGSC subtype (P = 0.056), suggesting a selection bias. Moreover, it is of our greatest interest that sensitivity to platinum-based therapy was largely depending on BRCA2 status (P = 0.023 for all ovarian cancer, P = 0.035 for HGSC). While, no significant association was found in BRCA1 mutated group (P = 0.3).
Conclusions
To date, it is the largest study on predisposition genes in ovarian carcinoma in Chinese population. Our study disclosed a more complexed spectrum as well as higher rate of germline aberrations compared with previously published data. Etiologically, our data revealed a putative contribution of mutated BRCA1 gene to the onset of ovarian cancer with serous phenotype. Clinically, BRCA2 and other HRR and MMR genes may be used as useful predictive tools for Platinum sensitivity.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
BGI Genomics.
Funding
BGI genomics.
Disclosure
C. Zhu: Full / Part-time employment: BGI genomics. D. Shao: Full / Part-time employment: BGI genomics. All other authors have declared no conflicts of interest.
Resources from the same session
3330 - Tumour-infiltrating lymphocytes and BRCA-like status in stage III breast cancer patients treated with intensified carboplatin-based chemotherapy
Presenter: Leonora De Boo
Session: Poster Display session 2
Resources:
Abstract
3971 - Unravelling the biological characteristics of MammaPrint extreme risk subgroups
Presenter: Rajith Bhaskaran
Session: Poster Display session 2
Resources:
Abstract
5871 - Residual Cancer burden as a prognostic factor in a large series of Neoadjuvant chemotherapy. Subgroup analysis per molecular surrogated subtypes
Presenter: Catalina Falo
Session: Poster Display session 2
Resources:
Abstract
5014 - Clinical validation of CanAssist Breast in a Spanish cohort
Presenter: Manjiri Bakre
Session: Poster Display session 2
Resources:
Abstract
2787 - Meta-analysis on association of pathological complete response with long-term survival outcomes in triple-negative breast cancer
Presenter: Peter A. Fasching
Session: Poster Display session 2
Resources:
Abstract
4301 - Immune infiltrate composition across intrinsic subtypes in hormone receptor (HR)+/HER2- early breast cancer (BC) enrolled in the prospective LETLOB trial
Presenter: Gaia Griguolo
Session: Poster Display session 2
Resources:
Abstract
3205 - Frequency of germline mutations in women's cancer susceptibility genes in a large cohort of Chinese breast cancer patients
Presenter: Ning Liao
Session: Poster Display session 2
Resources:
Abstract
4091 - Triple blinded Prospective Study assessing the Impact of Genomics & Artificial Intelligence Watson For Oncology (WFO) on MDT’s Decision of Adjuvant Systemic Therapy for Hormone Receptor Positive Early Breast Carcinoma-
Presenter: Somashekhar Sampige Prasannakumar
Session: Poster Display session 2
Resources:
Abstract
4359 - Prognostic significance of Progesterone Receptor levels in luminal-like Her2- early Breast Cancer patients. A retrospective single Cancer Center analysis.
Presenter: Anna Diana
Session: Poster Display session 2
Resources:
Abstract
1369 - PAM50 HER2-enriched subtype and pathological complete response in HER2-positive early breast cancer: a meta-analysis
Presenter: Francesco Schettini
Session: Poster Display session 2
Resources:
Abstract