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. 2017 Sep 29;12(9):e0185615.
doi: 10.1371/journal.pone.0185615. eCollection 2017.

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

Pi-Lin Sung  1   2   3 , Kuo-Chang Wen  1   2   3 , Yi-Jen Chen  1   2   3 , Ta-Chung Chao  4 , Yi-Fang Tsai  5 , Ling-Ming Tseng  5 , Jian-Tai Timothy Qiu  6   7 , Kuan-Chong Chao  2   3 , Hua-Hsi Wu  2   3 , Chi-Mu Chuang  1   2   3 , Peng-Hui Wang  1   2   3   8 , Chi-Ying F Huang  1   9
Affiliations

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

Pi-Lin Sung et al. PLoS One. .

Abstract

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 non-BRCA1/2 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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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. A flowchart of our study design.
This flowchart illustrates the cross-sectional hospital cohort and meta-analysis which were divided into two groups: BRCA1/2 and Panel test.
Fig 2
Fig 2. Family #42 pedigree.
The index individual #42 in this family has BRCA1 p.V802*. mutation. Individuals with ovarian, breast or other cancer with age at diagnosis are mentioned. Individuals who received test with positive BRCA1 mutation are marked with ah a red dot. Individuals who received test without mutation are marked with a blue square.
See this image and copyright information in PMC

References

    1. Harries M, Gore M. Part I: chemotherapy for epithelial ovarian cancer-treatment at first diagnosis. The Lancet Oncology. 2002;3(9):529–36. . - PubMed
    1. Siegel RL, Miller KD, Jemal A. Cancer Statistics, 2017. CA: a cancer journal for clinicians. 2017;67(1):7–30. doi: 10.3322/caac.21387 . - DOI - PubMed
    1. Chiang CJ, Lo WC, Yang YW, You SL, Chen CJ, Lai MS. Incidence and survival of adult cancer patients in Taiwan, 2002–2012. Journal of the Formosan Medical Association = Taiwan yi zhi. 2016;115(12):1076–88. doi: 10.1016/j.jfma.2015.10.011 . - DOI - PubMed
    1. Hemminki K, Granstrom C. Familial breast cancer: scope for more susceptibility genes? Breast cancer research and treatment. 2003;82(1):17–22. doi: 10.1023/B:BREA.0000003871.38587.8b . - DOI - PubMed
    1. Serova OM, Mazoyer S, Puget N, Dubois V, Tonin P, Shugart YY, et al. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? American journal of human genetics. 1997;60(3):486–95. ; PubMed Central PMCID: PMCPMC1712515. - PMC - PubMed