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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Shao, X-Y Cao, W-M Xie, S-N Yang, H-J Pan, Z-W Meng, X-L Chen, Z-H Ye, W-W Wang, X-J Gao, Y. Huang, J. |
| Spatial Coverage | China |
| Description | Country affiliation: China Author Affiliation: Cao WM ( Department of Medical Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Gao Y ( Zhejiang Key Laboratory of the Diagnosis & Treatment Technology on Thoracic Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Yang HJ ( Zhejiang Key Laboratory of the Diagnosis & Treatment Technology on Thoracic Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Xie SN ( Zhejiang Key Laboratory of the Diagnosis & Treatment Technology on Thoracic Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Meng XL ( Zhejiang Key Laboratory of the Diagnosis & Treatment Technology on Thoracic Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Pan ZW ( Zhejiang Key Laboratory of the Diagnosis & Treatment Technology on Thoracic Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Chen ZH ( Department of Medical Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Huang J ( Department of Medical Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Ye WW ( Department of Medical Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Shao XY ( Department of Medical Oncology, Zhejiang Cancer Hospital, Hangzhou, China.); Wang XJ ( Department of Medical Oncology, Zhejiang Cancer Hospital, Hangzhou, China wxiaojia@yahoo.com.) |
| Abstract | Germline mutations in identified breast cancer susceptibility genes account for less than 20% of Chinese familial breast cancers. Dicer is an essential component of the microRNA-producing machinery; germline mutations of DICER1 have been confirmed in familial pleuropulmonary blastoma, ovarian sex cord-stromal tumors, and other cancers. Low expression of DICER1 is frequently detected in breast cancer. However, whether germline mutations of DICER1 occur in familial breast cancers remain unknown. Sixty-five breast cancer probands from BRCA1/BRCA2-negative Chinese breast cancer families were screened for germline mutations in DICER1. In addition, 100 unrelated healthy females were enrolled as controls. A polymerase chain reaction sequencing assay was used to screen for mutations in coding regions and at the exon-intron boundaries of DICER1. All variants in introns were evaluated using the NNSplice software to determine the potential splicing effect. A total of 12 germline variants were found, including 11 variants in introns and 1 variant in the 3'-non-coding region. Four variants (IVS8-205 C>T, IVS11+131 delGAAA, IVS16+42 delTA, and IVS19+160 T>C) were novel. Three variants (IVS11+105 C>T, IVS16+42 delTA, and 6095 T>A) may affect splice sites. None of the observed variants appeared to be disease-related, suggesting that germline mutations in DICER1 are rare or absent in familial breast cancer patients. |
| e-ISSN | 16765680 |
| Journal | Genetics and Molecular Research |
| Issue Number | 4 |
| Volume Number | 13 |
| Language | English |
| Publisher | Fundação de Pesquisas Científicas de Ribeirão Preto |
| Publisher Date | 2014-12-18 |
| Publisher Place | Brazil |
| Access Restriction | Open |
| Subject Keyword | Dead-box Rna Helicases Genetics Germ-line Mutation Ovarian Neoplasms Pulmonary Blastoma Ribonuclease Iii Sex Cord-gonadal Stromal Tumors Brca1 Protein Metabolism Brca2 Protein Breast Neoplasms Computer Simulation Protein Isoforms Research Support, Non-u.s. Gov't Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics |
| Content Type | Text |
| Resource Type | Article |
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