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
328P - A retrospective analysis of patients with non-small cell lung cancer who developed drug-induced lung disorder by immune checkpoint inhibitors
Presenter: Fumiko Hayashi
Session: Poster display session
Resources:
Abstract
329P - High-level expression of HDAC10 is associated with PD-L1 expression and poor prognosis in patients with non-small cell lung cancer receiving pulmonectomy
Presenter: Xiaomei Liu
Session: Poster display session
Resources:
Abstract
331P - A retrospective analysis of immune checkpoint therapy in patients with non-small cell lung cancer: Focus on thyroid disorder
Presenter: Sawana Ono
Session: Poster display session
Resources:
Abstract
332P - Analyse the association between adverse events (AEs) and survival in patients treated with immune checkpoint inhibitors (ICIs)
Presenter: Chi-yuan Cheng
Session: Poster display session
Resources:
Abstract
333P - Study of searching on efficacy of immune checkpoint inhibitor for the non-small cell lung cancer using FDG-PET/CT and thallium SPECT
Presenter: KAYOKO Kibata
Session: Poster display session
Resources:
Abstract
334P - Incidence and characteristic of adrenal insufficiency due to immune checkpoint inhibitors therapy
Presenter: Daisuke Etoh
Session: Poster display session
Resources:
Abstract
335P - PD-L1 profile of nasopharyngeal cancer patients in Indonesia
Presenter: Handoko Handoko
Session: Poster display session
Resources:
Abstract
336P - Pembrolizumab plus chemotherapy versus pembrolizumab monotherapy for PD-L1-positive advanced non-small cell lung cancer in the real world
Presenter: Jun Sugisaka
Session: Poster display session
Resources:
Abstract
337P - Neutrophil-to-Lymphocyte ratio as a predictive factor for hyperprogressive disease in NSCLC patients treated with immune checkpoint inhibitor
Presenter: Ryo Takahashi
Session: Poster display session
Resources:
Abstract
338P - A new insight into tumour immune-evasion: Crosstalk between cancer stem cells and T regulatory cells
Presenter: Abhishek Dutta
Session: Poster display session
Resources:
Abstract