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Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer

 Ji Soo Park  ;  Saeam Shin  ;  Yoon Jung Lee  ;  Seung-Tae Lee  ;  Eun Ji Nam  ;  Jung Woo Han  ;  Sun Hwa Lee  ;  Tae Il Kim  ;  Hyung Seok Park 
 CANCER RESEARCH AND TREATMENT, Vol.54(4) : 1099-1110, 2022-10 
Journal Title
Issue Date
Adult ; BRCA1 Protein / genetics ; BRCA2 Protein / genetics* ; Breast Neoplasms* / genetics ; Female ; Genetic Counseling ; Genetic Predisposition to Disease ; Humans ; Mutation ; Republic of Korea ; Triple Negative Breast Neoplasms*
Beyond BRCA ; Breast neoplasms ; Cancer worry ; Genetic testing ; Multigene panels
Purpose: The aim of the study was to evaluate the clinical implication of multigene panel testing of beyond BRCA genes in Korean patients with BRCA1/2 mutation-negative breast cancer.

Materials and methods: Between 2016 and 2019, a total of 700 BRCA1/2 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 PALB2, 6 TP53, and 1 PTEN). PV/LPVs of clinical actionable genes for breast cancer management, high-risk genes and other moderate-risk genes such as ATM, BARD1, BRIP, CHEK2, NF1, and RAD51D, 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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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Tae Il(김태일) ORCID logo https://orcid.org/0000-0003-4807-890X
Nam, Eun Ji(남은지) ORCID logo https://orcid.org/0000-0003-0189-3560
Park, Ji Soo(박지수) ORCID logo https://orcid.org/0000-0002-0023-7740
Park, Hyung Seok(박형석) ORCID logo https://orcid.org/0000-0001-5322-6036
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Han, Jung Woo(한정우) ORCID logo https://orcid.org/0000-0001-8936-1205
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