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
3139 - Efficacy and safety of FOLFIRI/Aflibercept (FA) in elderly population with mCRC after failure of oxaliplatin-based chemotherapy.
Presenter: Nieves Martinez Lago
Session: Poster Display session 2
Resources:
Abstract
3446 - Fluoropyrimidine-induced cardiotoxicity in colorectal cancer patients: preliminary data from the prospective observational CHECKPOINT trial (NCT02665312)
Presenter: Pasquale Lombardi
Session: Poster Display session 2
Resources:
Abstract
3969 - Comparable survival outcome between Thai patients with sporadic young adult and adult onset colorectal cancer
Presenter: Kanjana Sukhokanjanachusak
Session: Poster Display session 2
Resources:
Abstract
4455 - Impact of primary tumor side on 3-year survival outcomes of first-line (1L) FOLFOX-4 ± cetuximab in patients with RAS wild-type (wt) metastatic colorectal cancer (mCRC) in the phase 3 TAILOR trial
Presenter: Shukui Qin
Session: Poster Display session 2
Resources:
Abstract
4481 - Undetectable RAS mutant clones in plasma: possible implication for therapy and prognosis in the patient with RAS mutant metastatic colorectal cancer?
Presenter: Mohamed Bouchahda
Session: Poster Display session 2
Resources:
Abstract
5074 - Dihydropyrimidine dehydrogenase (DPD) determination prior the administration of medicines containing fluorouracil: a single Spanish hospital experience.
Presenter: Maria Dolores Mediano Rambla
Session: Poster Display session 2
Resources:
Abstract
5242 - Differences in survival between right and left-sided colorrectal cancer (CRC) in every stage, a CARESS-CCR Group Study.
Presenter: Julia Alcaide-Garcia
Session: Poster Display session 2
Resources:
Abstract
1123 - Quality of Life (QoL) in patients with aflibercept (AFL) and FOLFIRI for metastatic colorectal cancer (mCRC) – Interim analysis with focus on mutational status of the non-interventional study QoLiTrap (AIO-LQ-0113)
Presenter: Roger von Moos
Session: Poster Display session 2
Resources:
Abstract
1212 - The cost of adverse event management in patients with RAS wild-type metastatic colorectal cancer treated with first-line cetuximab and panitumumab: an Italian healthcare payer perspective
Presenter: Karl Patterson
Session: Poster Display session 2
Resources:
Abstract
1619 - Meta-analysis of KRAS Mutation as prognostic factor in patients (pts.) with resection of colorectal (CRC) liver metastases: Tumor burden and Sideness analysis.
Presenter: Maria Romina Luca
Session: Poster Display session 2
Resources:
Abstract