Abstract 424P
Background
Recent advances in next generation sequencing technology helped us to test multiple germline genetic mutations simultaneously. However, because of the low frequency of pathogenic/ likely pathogenic variants beyond BRCA1/2, modest risk of cancer in the carriers of moderate penetrance genes, and lack of proper preventive strategies for the carriers, clinical application of NGS multiple panel tests still has limitations.
Methods
In this study, we provided sequential genetic testing and counselling programs for BRCA1/2 mutation tests and multigene panels beyond BRCA, and investigated cancer worry, genetic knowledge, and attitude towards gene panels among the patients.
Results
As of 28 February 2019, we prospectively enrolled 149 Korean BRCA1/2 mutation-negative female breast cancer patients with high risk for hereditary breast cancer. Median age of the patients was 42.9 (range, 21.9∼74.5) years. Among the patients, we identified 15 cases with pathogenic/ likely pathogenic variants. After genetic counselling about multigene panel, patients showed slightly decreased concern about the possibility of cancer in the future (average score of pre-, 4.32±0.808 to post-, 4.07±1.017; P = 0.003) and lower influence on mood (average score of pre-, 3.31±0.669 to post-, 3.19±0.684; P = 0.005). However, there were no changes in the average score of genetic knowledge (pre-, 0.68±0.212 to post-, 0.69±0.214; P = 0.465), and the impact of cancer worries on daily activities (pre-, 3.06±0.810 to post-, 2.97±0.699; P = 0.074). In the survey on multigene panel, 143 (96.0%) patients reported that genetic testing and counseling about multigene panel were very much (55.0%) or much (40.9%) helpful for the patients and family. 63 (42.3%) patients wanted concurrent application of BRCA1/2 mutation testing and multigene testing beyond BRCA, and 71 (47.7%) patients wanted sequential application of the tests.
Conclusions
Multigene panel testing and genetic counselling may help to decrease cancer worry about the possibility of cancer in the future in BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer. We need to find the appropriate sequence and methods for NGS multigene panel testing and counselling programs.
Clinical trial identification
N/A
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
National Research Foundation of Korea(NRF) grant funded by the Korea government(MSIT)(NRF-2018R1C1B6009449).
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
9P - XRCC1 Arg194Trp, Palb2 T1100T (3300T>G), HMMR V353A, TNF aG308A polymorphisms as diagnostic and prognostic markers of breast cancer in the Kyrgyz ethnic group
Presenter: Aigul Semetei kyzy
Session: Poster display session
Resources:
Abstract
232P - Early Results from the Phase I Study of SY-1365, a Potent and Selective CDK7 inhibitor, in Patients with Ovarian Cancer and Advanced Solid Tumors
Presenter: Debra Richardson
Session: Poster display session
Resources:
Abstract
382P - Drug metabolizing enzymes pharmacogenomic: Biomarkers for improved chemotherapy in head and neck cancer squamous cell carcinoma
Presenter: Sunishtha Bhatia
Session: Poster display session
Resources:
Abstract
401P - Women in oncology: Alarming figures from India
Presenter: Sharada Mailankody
Session: Poster display session
Resources:
Abstract
416P - Multidisciplinary management of sarcomas of the head and neck: An institutional experience
Presenter: Kavitha Jain
Session: Poster display session
Resources:
Abstract
523P - Co-morbilities and survival of patients initially diagnosed with extensive-stage small cell lung cancer: Impact of hypertension, diabetes and chronic hepatitis B viral infection
Presenter: Weigang Xiu
Session: Poster display session
Resources:
Abstract
529P - Osimertinib for patients with EGFR-mutant advanced NSCLC and asymptomatic brain metastases: An open-label, two-arm, phase II study
Presenter: Roni Gillis
Session: Poster display session
Resources:
Abstract