Abstract 2966
Background
Multiple high- and moderate- penetrance gene (including BRCA1 and BRCA2) have been discovered as susceptibility gene for hereditary breast and ovarian cancer. Recent advances in Next-generation sequencing (NGS) have provided an efficient method to evaluate these susceptibility gene simultaneously. The prevalence and clinical prediction factors associated with the pathogenic variants (PVs) have not been well studied in Chinese population.
Methods
Subjects were selected from individuals referred for genetic testing using a 21-gene panel (Oseq-BRCA) between January 2015 and March 2018. The distribution and prevalence of deleterious mutations were analyzed for the full cohort as well as subtypes.
Results
Overall, 176 deleterious mutations were observed in 19.50% (n = 172) individuals. Of these, 26 mutations are not reported in public databases and literatures. In the ovarian cancer only subgroup, 115 deleterious mutations were identified in 429 patients (48.6%). Patients with ovarian cancer with mutations were enriched for a family history of breast or ovarian cancers (p < 0.05). In the breast cancer only subgroup, 31 deleterious mutations were identified in 261 patients. Most mutations occurred in BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%). An additional 12 deleterious mutations (38.7%) were found in 7 other susceptibility genes. An increased frequency of mutation rate (57.9%) was observed in the subgroup of subjects with histories of both breast and ovarian cancer. Taken together, 19.50% of individuals carried a deleterious mutation in HBOC susceptibility genes in our cohort. Subgroup of subjects with histories of both breast and ovarian cancer had the highest prevalence of mutations.
Conclusions
Our results highlighted the genetic heterogeneity of HBOC and the efficiency of multigene panel in performing risk assessment.
Clinical trial identification
Our results highlighted the genetic heterogeneity of HBOC and the efficiency of multigene panel in performing risk assessment.
Editorial acknowledgement
Legal entity responsible for the study
BGI Genomics.
Funding
BGI Genomics.
Disclosure
D. Shao: Full / Part-time employment: BGI genomics. S. Cheng: Full / Part-time employment: BGI genomics. F. Guo: Full / Part-time employment: BGI genomics. Y. Yuan: Full / Part-time employment: BGI genomics. K. Hu: Full / Part-time employment: BGI genomics. Z. Wang: Full / Part-time employment: BGI genomics. X. Meng: Full / Part-time employment: BGI genomics. X. Jin: Full / Part-time employment: BGI genomics. X. Yun: Full / Part-time employment: BGI genomics. X. Chai: Full / Part-time employment: BGI genomics. H. Li: Full / Part-time employment: BGI genomics. Y. Zhang: Full / Part-time employment: BGI genomics. H. Zhang: Full / Part-time employment: BGI genomics. M. Ye: Full / Part-time employment: BGI genomics. All other authors have declared no conflicts of interest.
Resources from the same session
3902 - The efficacy of preoperative breast cancer chemotherapy without anti-HER2-targeted treatment – single center experience in setting of no reimbursement in Poland (2011-2015)
Presenter: Agnieszka Badora-Rybicka
Session: Poster Display session 2
Resources:
Abstract
4733 - A Multicentre, International Neoadjuvant (NA), Randomized, Double-blind Phase III Trial comparing FULVESTRANT to a combination of FULVESTRANT and PALBOCICLIB in patients with operable Luminal Breast Cancer (SAFIA Trial)
Presenter: Jean-Marc Nabholtz
Session: Poster Display session 2
Resources:
Abstract
5227 - Outcome of Non-metastatic Male Breast Cancer: 222 patients
Presenter: Ulku Yalcintas Arslan
Session: Poster Display session 2
Resources:
Abstract
5943 - Effects of delayed initiation of adjuvant trastuzumab for non-metastatic, Her2 positive breast cancer in a limited resources setting: ML25232 study final results
Presenter: Samir Beslija
Session: Poster Display session 2
Resources:
Abstract
1725 - Final results of scalp cooling for hair preservation: A single- institution prospective study.
Presenter: Dario Loparco
Session: Poster Display session 2
Resources:
Abstract
3713 - Adjuvant Systemic Therapy in Women with Early Breast Cancer and Intermediate Prosigna ROR Scores: Is Chemotherapy Use Declining? Evidence From a Large Practice
Presenter: Lowell Hart
Session: Poster Display session 2
Resources:
Abstract
818 - Management of early breast cancer in women over 90: A 10 year experience
Presenter: Emily Coffey
Session: Poster Display session 2
Resources:
Abstract
1141 - Evolution in the risk of adverse events of adjuvant endocrine therapy in postmenopausal women with early- stage breast cancer.
Presenter: Daniel Reinhorn
Session: Poster Display session 2
Resources:
Abstract
2277 - Hepatitis B screening and incidence of flare among non-metastatic breast cancer patients treated with anthracyclines
Presenter: Zewen Zhang
Session: Poster Display session 2
Resources:
Abstract
2781 - Effect of denosumab on low bone mineral density in postmenopausal Japanese early breast cancer patients receiving aromatase nhibitors : 36-month results
Presenter: Koichi Sakaguchi
Session: Poster Display session 2
Resources:
Abstract