Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
| Autor: | Sun-Young Kong, Hyeong-Gon Moon, Kyong Ah Yoon, Charny Park, Han-Byoel Lee, Eun Sook Lee, Tae Kyung Yoo, Boyoung Park, Dong Young Noh, Eun Shin Lee, Ryong Nam Kim, Wonshik Han, Hee Chul Shin |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
0301 basic medicine Oncology Cancer Research medicine.medical_specialty Breast Neoplasms MLH1 Young Adult 03 medical and health sciences 0302 clinical medicine Breast cancer Germline mutation Neoplastic Syndromes Hereditary Internal medicine Republic of Korea Biomarkers Tumor medicine Humans Genetic Predisposition to Disease Genetic Testing Family history Gene Germ-Line Mutation Aged Aged 80 and over BRCA2 Protein BRCA1 Protein business.industry High-Throughput Nucleotide Sequencing Cancer Middle Aged Prognosis medicine.disease 030104 developmental biology 030220 oncology & carcinogenesis Next-generation sequencing Female Original Article Hereditary breast and ovarian cancer syndrome Hereditary Cancer Transcriptome business Ovarian cancer |
| Zdroj: | Cancer Research and Treatment : Official Journal of Korean Cancer Association |
| ISSN: | 2005-9256 1598-2998 |
| DOI: | 10.4143/crt.2019.559 |
| Popis: | PurposeHereditary 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 nextgeneration 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 MethodsA 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.ResultsOf 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.ConclusionNGS-based multiple-gene panel testing improved the detection rates of deleterious mutations and provided a cost-effective cancer risk assessment. |
| Databáze: | OpenAIRE |
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