Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 안정신 | * |
dc.date.accessioned | 2023-01-06T16:31:00Z | - |
dc.date.available | 2023-01-06T16:31:00Z | - |
dc.date.issued | 2022 | * |
dc.identifier.issn | 2288-6575 | * |
dc.identifier.other | OAK-32788 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/263078 | - |
dc.description.abstract | Purpose: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant. Methods: This study included breast or ovarian cancer patients tested for BRCA1/2 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the BRCA1:c.5017_5019del variant according to the electronic medical records. Results: We present 10 breast cancer patients and 7 ovarian cancer patients from 15 families identified as having BRCA1:c.5017_5019del and a total of 19 cases of breast cancer and 14 cases of ovarian cancer in these families. The ratio of breast-to-ovarian cancer was 1.3:1. Breast cancer patients with this variant showed a rich family history of breast or ovarian cancer, 8 patients (80.0%). The mean age at diagnosis was 45.4 years and 6 patients (60.0%) were categorized into hormone-receptor–negative breast cancer. Also, the ovarian cancer patients with this variant showed strong family histories of breast and/or ovarian cancer in 4 patients (57.1%). Conclusion: We presented clinical evidence for the reclassification of BRCA1:c.5017_5019del as a likely pathogenic variant (LPV). Reclassification as LPV could result in the prophylactic treatment and medical surveillance of probands, family testing recommendations, and appropriate genetic counseling of their families. Copyright © 2022, the Korean Surgical Society. | * |
dc.language | English | * |
dc.publisher | Korean Surgical Society | * |
dc.subject | BRCA1 | * |
dc.subject | Breast neoplasms | * |
dc.subject | Genes | * |
dc.subject | Genetic testing | * |
dc.subject | Hereditary breast | * |
dc.subject | ovarian cancer syndrome | * |
dc.title | Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant | * |
dc.type | Article | * |
dc.relation.issue | 6 | * |
dc.relation.volume | 103 | * |
dc.relation.index | SCIE | * |
dc.relation.index | SCOPUS | * |
dc.relation.index | KCI | * |
dc.relation.startpage | 323 | * |
dc.relation.lastpage | 330 | * |
dc.relation.journaltitle | Annals of Surgical Treatment and Research | * |
dc.identifier.doi | 10.4174/astr.2022.103.6.323 | * |
dc.identifier.scopusid | 2-s2.0-85144475711 | * |
dc.author.google | Bang Y.J. | * |
dc.author.google | Kwon W.K. | * |
dc.author.google | Kim J.-W. | * |
dc.author.google | Lee J.E. | * |
dc.author.google | Jung B.Y. | * |
dc.author.google | Kim M. | * |
dc.author.google | Kim J. | * |
dc.author.google | An J. | * |
dc.author.google | Jung S.P. | * |
dc.author.google | Kim H.-K. | * |
dc.author.google | Kim Z. | * |
dc.author.google | Youn H.J. | * |
dc.author.google | Ryu J.M. | * |
dc.author.google | Kim S.-W. | * |
dc.author.google | Korean Hereditary Breast Cancer Study Group | * |
dc.contributor.scopusid | 안정신(57211311921) | * |
dc.date.modifydate | 20240426113535 | * |