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
51P - Enhancing the anti-breast tumour activity of STING through a novel sting transcriptional regulator
Presenter: Hanchu Xiong
Session: Poster display session
Resources:
Abstract
52P - Reverse Warburg effect-related mitochondrial activity and 18F-FDG uptake in invasive ductal carcinoma
Presenter: Byung Wook Choi
Session: Poster display session
Resources:
Abstract
53P - Phase II study of atorvastatin in combination with radiotherapy and temozolomide in patients with glioblastoma (ART): Final analysis report
Presenter: Abdullah Altwairgi
Session: Poster display session
Resources:
Abstract
54P - Association between Parkinson’s disease and brain tumours: A nationwide population-based cohort study
Presenter: Joo-hyun Park
Session: Poster display session
Resources:
Abstract
55P - Toxicity profiles of treatment with modern fractionated radiotherapy, contemporary stereotactic radiosurgery, or transsphenoidal surgery in non-functioning pituitary macroadenoma
Presenter: Kevin Sheng-Po Yuan
Session: Poster display session
Resources:
Abstract
56P - Hippocampal avoidance in WBRT for metastases: Comparative neurocognitive and dosimetric assessment
Presenter: Vibhay Pareek
Session: Poster display session
Resources:
Abstract
57P - Multidisciplinary brain metastasis clinic: Is it effective and worthwhile?
Presenter: Annu Rajpurohit
Session: Poster display session
Resources:
Abstract
58P - Functional status as a determinant prognostic factor for overall survival in adult patients with medulloblastoma treated with chemotherapy and radiotherapy
Presenter: Juan Ayala Alvarez
Session: Poster display session
Resources:
Abstract
59P - Pattern of care in high-grade gliomas after recurrence
Presenter: Nandini Menon
Session: Poster display session
Resources:
Abstract
60P - Five fractions plus “SRS” boost combined with temozolamide for newly diagnosed and recurrent glioblastoma multiforme (GBM)
Presenter: Azhar Rashid
Session: Poster display session
Resources:
Abstract