지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2022.10
- 수록면
- 1,099 - 1,110 (12page)
- DOI
- 10.4143/crt.2021.978
이용수
초록· 키워드
오류제보하기
Purpose The aim of the study was to evaluate the clinical implication of multigene panel testing of beyond <i>BRCA</i> genes in Korean patients with <i>BRCA1/2</i> mutation-negative breast cancer.Materials and Methods Between 2016 and 2019, a total of 700 <i>BRCA1/2</i> mutation-negative breast cancer patients received comprehensive multigene panel testing and genetic counseling. Among them, 347 patients completed a questionnaire about cancer worry, genetic knowledge, and preference for the method of genetic tests during pre- and post-genetic test counseling. The frequency of pathogenic and likely pathogenic variants (PV/LPV) were analyzed.Results At least one PV/LPV of 26 genes was found in 76 out of 700 patients (10.9 %). The rate for PV/LPV was 3.4% for high-risk genes (17 <i>PALB2</i>, 6 <i>TP53</i>, and 1 <i>PTEN</i>). PV/LPVs of clinical actionable genes for breast cancer management, high-risk genes and other moderate-risk genes such as <i>ATM, BARD1, BRIP, CHEK2, NF1</i>, and <i>RAD51D</i>, were observed in 7.4%. Patients who completed the questionnaire showed decreased concerns about the risk of additional cancer development (average score, 4.21 to 3.94; p < 0.001), influence on mood (3.27 to 3.13; p < 0.001), influence on daily functioning (3.03 to 2.94; p=0.006); and increased knowledge about hereditary cancer syndrome (66.9 to 68.8; p=0.025) in post-test genetic counseling. High cancer worry scales (CWSs) were associated with age ≤ 40 years and the identification of PV/LPV. Low CWSs were related to the satisfaction of the counselee.Conclusion Comprehensive multigene panel test with genetic counseling is clinically applicable. It should be based on interpretable genetic information, consideration of potential psychological consequences, and proper preventive strategies.
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