NDLI: Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer

Content Provider	PubMed Central
Author	Lin, Po-han Kuo, Wen-hung Huang, Ai-chu Lu, Yen-shen Lin, Ching-hung Kuo, Sung-hsin Wang, Ming-yang Liu, Chun-yu Cheng, Fiona Tsui-fen Yeh, Ming-hsin Li, Huei-ying Yang, Yu-hsuan Hsu, Yu-hua Fan, Sheng-chih Li, Long-yuan Yu, Sung-liang Chang, King-jen Chen, Pei-lung Ni, Yen-hsuan Huang, Chiun-sheng
Copyright Year	2016
Abstract	Since BRCA mutations are only responsible for 10–20% of cases of breast cancer in patients with early-onset or a family history and since next-generation sequencing technology allows the simultaneous sequencing of a large number of target genes, testing for multiple cancer-predisposing genes is now being considered, but its significance in clinical practice remains unclear. We then developed a sequencing panel containing 68 genes that had cancer risk association for patients with early-onset or familial breast cancer. A total of 133 patients were enrolled and 30 (22.6%) were found to carry germline deleterious mutations, 9 in BRCA1, 11 in BRCA2, 2 in RAD50, 2 in TP53 and one each in ATM, BRIP1, FANCI, MSH2, MUTYH, and RAD51C. Triple-negative breast cancer (TNBC) was associated with the highest mutation rate (45.5%, p = 0.025). Seven of the 9 BRCA1 mutations and the single FANCI mutation were in the TNBC group; 9 of the 11 BRCA2, 1 of the 2 RAD50 as well as BRIP1, MSH2, MUTYH, and RAD51C mutations were in the hormone receptor (HR)(+)Her2(−) group, and the other RAD50, ATM, and TP53 mutations were in the HR(+)Her2(+) group. Mutation carriers were considered as high-risk to develop malignancy and advised to receive cancer screening. Screening protocols of non-BRCA genes were based on their biologic functions; for example, patients carrying RAD51C mutation received a screening protocol similar to that for BRCA, since BRCA and RAD51C are both involved in homologous recombination. In conclusion, we consider that multiple gene sequencing in cancer risk assessment is clinically valuable.
Related Links	http://dx.doi.org/10.18632/oncotarget.7027
Starting Page	8310
File Format	PDF
ISSN	19492553
e-ISSN	19492553
Journal	Oncotarget
Issue Number	7
Volume Number	7
Language	English
Publisher	Impact Journals LLC
Publisher Date	2016-02-01
Access Restriction	Open
Rights Holder	Impact Journals LLC
Subject Keyword	Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Oncology

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