{"title":"用多基因面板检测疑似遗传性乳腺癌患者的种系变异。","authors":"Yusa Togashi, Masayuki Nagahashi, Mina Kashima, Chiho Okada, Chinatsu Kinjo, Ayako Miyazaki, Mako Ueda, Hiroshi Tsubamoto, Hideaki Sawai, Yasuo Miyoshi","doi":"10.1007/s00595-025-02994-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.</p><p><strong>Methods: </strong>This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.</p><p><strong>Results: </strong>We identified 36 women who underwent multigene panel testing: 8 (22.2%) had a pathogenic variant, with or without other variants of uncertain significance (VUSs); 15 (41.7%) had VUSs only; and 13 (36.1%) had negative genetic test results. Of the eight pathogenic variants, five were BRCA2 variants and one each were BRCA1, MLH1, and RINT1 variants. The VUSs included BRCA1 and BRCA2, as well as other breast cancer-associated genes, such as ATM, CDH1, CHEK2, and PALB2. Referring to the latest ClinVar database, one of the variants identified as a VUS at diagnosis was re-determined as likely pathogenic, and three of the variants identified as VUSs at diagnosis were re-determined as benign.</p><p><strong>Conclusion: </strong>VUSs are frequently identified during testing and it is important to monitor these individuals because VUS evaluations can change over time.</p>","PeriodicalId":22163,"journal":{"name":"Surgery Today","volume":" ","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.\",\"authors\":\"Yusa Togashi, Masayuki Nagahashi, Mina Kashima, Chiho Okada, Chinatsu Kinjo, Ayako Miyazaki, Mako Ueda, Hiroshi Tsubamoto, Hideaki Sawai, Yasuo Miyoshi\",\"doi\":\"10.1007/s00595-025-02994-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.</p><p><strong>Methods: </strong>This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.</p><p><strong>Results: </strong>We identified 36 women who underwent multigene panel testing: 8 (22.2%) had a pathogenic variant, with or without other variants of uncertain significance (VUSs); 15 (41.7%) had VUSs only; and 13 (36.1%) had negative genetic test results. Of the eight pathogenic variants, five were BRCA2 variants and one each were BRCA1, MLH1, and RINT1 variants. The VUSs included BRCA1 and BRCA2, as well as other breast cancer-associated genes, such as ATM, CDH1, CHEK2, and PALB2. Referring to the latest ClinVar database, one of the variants identified as a VUS at diagnosis was re-determined as likely pathogenic, and three of the variants identified as VUSs at diagnosis were re-determined as benign.</p><p><strong>Conclusion: </strong>VUSs are frequently identified during testing and it is important to monitor these individuals because VUS evaluations can change over time.</p>\",\"PeriodicalId\":22163,\"journal\":{\"name\":\"Surgery Today\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2025-01-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Surgery Today\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00595-025-02994-3\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"SURGERY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Surgery Today","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00595-025-02994-3","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"SURGERY","Score":null,"Total":0}
Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.
Purpose: To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.
Methods: This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.
Results: We identified 36 women who underwent multigene panel testing: 8 (22.2%) had a pathogenic variant, with or without other variants of uncertain significance (VUSs); 15 (41.7%) had VUSs only; and 13 (36.1%) had negative genetic test results. Of the eight pathogenic variants, five were BRCA2 variants and one each were BRCA1, MLH1, and RINT1 variants. The VUSs included BRCA1 and BRCA2, as well as other breast cancer-associated genes, such as ATM, CDH1, CHEK2, and PALB2. Referring to the latest ClinVar database, one of the variants identified as a VUS at diagnosis was re-determined as likely pathogenic, and three of the variants identified as VUSs at diagnosis were re-determined as benign.
Conclusion: VUSs are frequently identified during testing and it is important to monitor these individuals because VUS evaluations can change over time.
期刊介绍：
Surgery Today is the official journal of the Japan Surgical Society. The main purpose of the journal is to provide a place for the publication of high-quality papers documenting recent advances and new developments in all fields of surgery, both clinical and experimental. The journal welcomes original papers, review articles, and short communications, as well as short technical reports("How to do it").
The "How to do it" section will includes short articles on methods or techniques recommended for practical surgery. Papers submitted to the journal are reviewed by an international editorial board. Field of interest: All fields of surgery.
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