Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
DC Field | Value | Language |
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dc.contributor.author | Shin, Hee-Chul | - |
dc.contributor.author | Lee, Han-Byoel | - |
dc.contributor.author | Yoo, Tae-Kyung | - |
dc.contributor.author | Lee, Eun-Shin | - |
dc.contributor.author | Kim, Ryong Nam | - |
dc.contributor.author | Park, Bo young | - |
dc.contributor.author | Yoon, Kyong-Ah | - |
dc.contributor.author | Park, Charny | - |
dc.contributor.author | Lee, Eun Sook | - |
dc.contributor.author | Moon, Hyeong-Gon | - |
dc.contributor.author | Noh, Dong-Young | - |
dc.contributor.author | Kong, Sun-Young | - |
dc.contributor.author | Han, Wonshik | - |
dc.date.accessioned | 2022-07-07T20:17:40Z | - |
dc.date.available | 2022-07-07T20:17:40Z | - |
dc.date.created | 2021-05-14 | - |
dc.date.issued | 2020-07 | - |
dc.identifier.issn | 1598-2998 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/145372 | - |
dc.description.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. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | KOREAN CANCER ASSOCIATION | - |
dc.title | Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Park, Bo young | - |
dc.identifier.doi | 10.4143/crt.2019.559 | - |
dc.identifier.scopusid | 2-s2.0-85088179130 | - |
dc.identifier.wosid | 000550025500006 | - |
dc.identifier.bibliographicCitation | CANCER RESEARCH AND TREATMENT, v.52, no.3, pp.697 - 713 | - |
dc.relation.isPartOf | CANCER RESEARCH AND TREATMENT | - |
dc.citation.title | CANCER RESEARCH AND TREATMENT | - |
dc.citation.volume | 52 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 697 | - |
dc.citation.endPage | 713 | - |
dc.type.rims | ART | - |
dc.type.docType | 정기학술지(Article(Perspective Article포함)) | - |
dc.identifier.kciid | ART002608240 | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | Oncology | - |
dc.relation.journalWebOfScienceCategory | Oncology | - |
dc.subject.keywordPlus | BRCA2 | - |
dc.subject.keywordPlus | RAD51 | - |
dc.subject.keywordPlus | ASSOCIATION | - |
dc.subject.keywordPlus | GUIDELINES | - |
dc.subject.keywordPlus | GENOMICS | - |
dc.subject.keywordPlus | OVARIAN | - |
dc.subject.keywordPlus | PALB2 | - |
dc.subject.keywordPlus | RISK | - |
dc.subject.keywordAuthor | Germline mutation | - |
dc.subject.keywordAuthor | Next-generation sequencing | - |
dc.subject.keywordAuthor | Breast neoplasms | - |
dc.subject.keywordAuthor | Hereditary breast and ovarian cancer syndrome | - |
dc.identifier.url | https://www.e-crt.org/journal/view.php?doi=10.4143/crt.2019.559 | - |
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