Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Testopen access
- Authors
- Shin, Hee-Chul; Lee, Han-Byoel; Yoo, Tae-Kyung; Lee, Eun-Shin; Kim, Ryong Nam; Park, Bo young; Yoon, Kyong-Ah; Park, Charny; Lee, Eun Sook; Moon, Hyeong-Gon; Noh, Dong-Young; Kong, Sun-Young; Han, Wonshik
- Issue Date
- Jul-2020
- Publisher
- KOREAN CANCER ASSOCIATION
- Keywords
- Germline mutation; Next-generation sequencing; Breast neoplasms; Hereditary breast and ovarian cancer syndrome
- Citation
- CANCER RESEARCH AND TREATMENT, v.52, no.3, pp.697 - 713
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- CANCER RESEARCH AND TREATMENT
- Volume
- 52
- Number
- 3
- Start Page
- 697
- End Page
- 713
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/145372
- DOI
- 10.4143/crt.2019.559
- ISSN
- 1598-2998
- Abstract
- Purpose: Hereditary cancer syndrome means that inherited genetic mutations can increase a person's risk of developing cancer. We assessed the frequency of germline mutations using an next-generation sequencing (NGS)-based multiple-gene panel containing 64 cancer-predisposing genes in Korean breast cancer patients with clinical features of hereditary breast and ovarian cancer syndrome (HBOC).
Materials and methods: A total of 64 genes associated with hereditary cancer syndrome were selected for development of an NGS-based multi-gene panel. Targeted sequencing using the multi-gene panel was performed to identify germline mutations in 496 breast cancer patients with clinical features of HBOC who underwent breast cancer surgery between January 2002 and December 2017.
Results: Of 496 patients, 95 patients (19.2%) were found to have 48 deleterious germline mutations in 16 cancer susceptibility genes. The deleterious mutations were found in 39 of 250 patients (15.6%) who had breast cancer and another primary cancer, 38 of 169 patients (22.5%) who had a family history of breast cancer (≥ 2 relatives), 16 of 57 patients (28.1%) who had bilateral breast cancer, and 29 of 84 patients (34.5%) who were diagnosed with breast cancer at younger than 40 years of age. Of the 95 patients with deleterious mutations, 60 patients (63.2%) had BRCA1/2 mutations and 38 patients (40.0%) had non-BRCA1/2 mutations. We detected two novel deleterious mutations in BRCA2 and MLH1.
Conclusion: NGS-based multiple-gene panel testing improved the detection rates of deleterious mutations and provided a cost-effective cancer risk assessment.
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