Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients
| Autor: | Tsun Leung Chan, Karen K. L. Chan, Edmond Sk Ma, Chun Hang Au, Ava Kwong, Cecilia Ys Ho, James M. Ford, Vivian Y. Shin, Hextan Y.S. Ngan, Jiawei Chen, Isabella Cheuk |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Genomics medicine.disease_cause DNA sequencing Germline Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Breast cancer Germline mutation Internal medicine medicine PTEN skin and connective tissue diseases Mutation biology business.industry medicine.disease 030104 developmental biology 030220 oncology & carcinogenesis biology.protein Molecular Medicine Ovarian cancer business |
| Zdroj: | The Journal of Molecular Diagnostics. 22:544-554 |
| ISSN: | 1525-1578 |
| DOI: | 10.1016/j.jmoldx.2020.01.013 |
| Popis: | Differences in the mutation spectrum across ethnicities suggest the importance of identifying genes in addition to common high penetrant genes to estimate the associated breast cancer risk in China. A total of 1338 high-risk breast cancer patients who tested negative for germline BRCA1, BRCA2, TP53, and PTEN mutations between 2007 and 2017 were selected from the Hong Kong Hereditary Breast Cancer Family Registry. Patient samples were subjected to next-generation DNA sequencing using a multigene panel (Color Genomics). All detected pathogenic variants were validated by bidirectional DNA sequencing. The sequencing data were coanalyzed by a bioinformatics pipeline developed in-house. Sixty-one pathogenic variants (4.6%) were identified in this cohort in 11 cancer predisposition genes. Most carriers (77.1%) had early onset of breast cancer (age |
| Databáze: | OpenAIRE |
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