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
380P - Ventricular–Subventricular zone involvement: A predictive factor for survival in glioblastoma
Presenter: Vibhay Pareek
Session: Poster display session
Resources:
Abstract
381P - XKR8 is a promising potential prognostic marker in glioblastoma multiforme patients
Presenter: Kristina Havrysh
Session: Poster display session
Resources:
Abstract
383P - Screening of prognostic molecular biomarker for resectable pancreatic cancer
Presenter: Yonggang Peng
Session: Poster display session
Resources:
Abstract
384P - Prevalence of abnormal microsatellite instability test among ovary and endometrial cancer patients
Presenter: Min Kyu Kim
Session: Poster display session
Resources:
Abstract
385P - Identifying CASP8 polymorphisms associated with breast cancer risk in an Iranian population
Presenter: Alireza Pasdar
Session: Poster display session
Resources:
Abstract
386P - Unusual folding of NaPi2b transporter extramembrane domain 4 during malignant transformation
Presenter: Leysan Minigulova
Session: Poster display session
Resources:
Abstract
387P - 5-years conditional disease free survival and overall survival for breast cancer patients in South Korea
Presenter: Jee hyun Ahn
Session: Poster display session
Resources:
Abstract
388P - To identify circulating tumour cells by machine learning approach
Presenter: Yuebin Liang
Session: Poster display session
Resources:
Abstract
389P - The establishment of patient-derived organoid models and drug response of resectable non-small cell lung cancer
Presenter: Jing-Hua Chen
Session: Poster display session
Resources:
Abstract
395P - Filipinos and lung cancer: An infodemiological assessment using Google trends from 2009 to 2019
Presenter: Lance Isidore Catedral
Session: Poster display session
Resources:
Abstract