The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels

被引:18
|
作者
Sung, Pi-Lin [1 ,2 ,3 ]
Wen, Kuo-Chang [1 ,2 ,3 ]
Chen, Yi-Jen [1 ,2 ,3 ]
Chao, Ta-Chung [4 ]
Tsai, Yi-Fang [5 ]
Tseng, Ling-Ming [5 ]
Qiu, Jian-Tai Timothy [6 ,7 ]
Chao, Kuan-Chong [2 ,3 ]
Wu, Hua-Hsi [2 ,3 ]
Chuang, Chi-Mu [1 ,2 ,3 ]
Wang, Peng-Hui [1 ,2 ,3 ,8 ]
Huang, Chi-Ying F. [1 ,9 ]
机构
[1] Natl Yang Ming Univ, Inst Clin Med, Taipei, Taiwan
[2] Taipei Vet Gen Hosp, Dept Obstet & Gynecol, Taipei, Taiwan
[3] Natl Yang Ming Univ, Dept Obstet & Gynecol, Taipei, Taiwan
[4] Taipei Vet Gen Hosp, Dept Oncol, Taipei, Taiwan
[5] Taipei Vet Gen Hosp, Dept Surg, Taipei, Taiwan
[6] Chang Gung Univ, Dept Biomed Sci, New Taipei, Taiwan
[7] Chang Gung Mem Hosp, Dept Obstet & Gynecol, Taoyuan, Taiwan
[8] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan
[9] Natl Yang Ming Univ, Inst Biopharmaceut Sci, Taipei, Taiwan
来源
PLOS ONE | 2017年 / 12卷 / 09期
关键词
FAMILIAL BREAST; EARLY-ONSET; INHERITED MUTATIONS; MAINTENANCE THERAPY; GERMLINE MUTATIONS; GENOMIC CAPTURE; RISK-ASSESSMENT; POLISH BREAST; MULTIPLE; PREVALENCE;
D O I
10.1371/journal.pone.0185615
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
An important role of genetic factors in the development of breast cancer (BC) or ovarian cancer (OC) in Taiwanese (ethnic Chinese) patients has been suggested. However, other than germline BRCA1 or BRCA2 mutations, which are related to hereditary breast-ovarian cancer (HBOC), cancer-predisposition genes have not been well studied in this population. The aim of the present study was to more accurately summarize the prevalence of genetic mutations in HBOC patients using various gene panels ranging in size from BRCA1/2 alone to multi-gene panels. Among 272 HBOC patients analyzed, the prevalence of BRCA1, BRCA2 and non-BRCA1/2 pathogenic mutations was 7.7% (21/272), 6.8% (16/236) and 8.2% (13/ 159), respectively. The total mutation rate was 18.4% (50/272). Although no founder mutations were identified in this study, two recurrent mutations, BRCA1 (c.3607C>T) and BRCA2 (c.5164_5165 delAG), were found. The main pathogenic/likely pathogenic mutations in nonBRCA1/2 genes included ATM, BRIP1, FANCI, MSH2, MUYTH, RAD50, RAD51C and TP53. The prevalence rate of gene mutations in HBOC patients did not differ with respect to whether BC or OC was the first diagnosis or they presented a family history of the disease or their age at diagnosis. HBOC patients with both BC and OC exhibited a higher prevalence rate of mutations (50.0%) than patients with OC (25.0%) or BC (8.6%) alone. In conclusion, evaluation of hereditary cancer risk in Taiwan HBOC patients, particularly individuals with double cancer, is strongly encouraged. Panel testing can yield additional genomic information, and widespread and well-designed panel testing will help in assessing more accurate mutational prevalence of risk genes.
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页数:15
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