Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption : a case report

• Main Authors: Deuitch, Natalie, Li, Shao-Tzu, Courtney, Eliza, Shaw, Tarryn, Dent, Rebecca, Tan, Veronique, Yackowski, Lauren, Torene, Rebecca, Berkofsky-Fessler, Windy, Ngeow, Joanne
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2020
• Subjects: Science::Medicine; Cancer Genomics; Next-generation Sequencing
• Online Access: https://hdl.handle.net/10356/145262
• Institution: Nanyang Technological University

Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not detect any pathogenic variants. Subsequent reanalysis for MEI...