Scholarlink

Purpose <p>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> Methods <p>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> Results <p>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 <i>BRCA2</i> variants and one each were <i>BRCA1</i>, <i>MLH1,</i> and <i>RINT1</i> variants. The VUSs included <i>BRCA1</i> and <i>BRCA2</i>, as well as other breast cancer-associated genes, such as <i>ATM</i>, <i>CDH1</i>, <i>CHEK2</i>, and <i>PALB2</i>. 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> Conclusion <p>VUSs are frequently identified during testing and it is important to monitor these individuals because VUS evaluations can change over time.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年1月20日

查看全文
  • Yusa Togashi,
  • Masayuki Nagahashi,
  • Mina Kashima,
  • Chiho Okada,
  • Chinatsu Kinjo,
  • Ayako Miyazaki,
  • Mako Ueda,
  • Hiroshi Tsubamoto,
  • Hideaki Sawai,
  • Yasuo Miyoshi

摘要

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.