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Title: Inherited breast cancer predisposition in Asians: Multigene panel testing outcomes from Singapore
Authors: Wong, E.S.Y
Shekar, S
Met-Domestici, M
Chan, C
Sze, M
Yap, Y.S 
Rozen, S.G 
Tan, M.-H
Ang, P
Ngeow, J 
Lee, A.S.G 
Issue Date: 2016
Citation: Wong, E.S.Y, Shekar, S, Met-Domestici, M, Chan, C, Sze, M, Yap, Y.S, Rozen, S.G, Tan, M.-H, Ang, P, Ngeow, J, Lee, A.S.G (2016). Inherited breast cancer predisposition in Asians: Multigene panel testing outcomes from Singapore. npj Genomic Medicine 1 : 15003. ScholarBank@NUS Repository.
Abstract: Genetic testing for germline mutations in breast cancer predisposition genes can potentially identify individuals at a high risk of developing breast and/or ovarian cancer. There is a paucity of such mutational information for Asians. Panel testing of 25 cancer susceptibility genes and BRCA1/2 deletion/duplication analysis was performed for 220 Asian breast cancer patients or their family members referred for genetics risk assessment. All 220 participants had at least one high-risk feature: having a family history of breast and/or ovarian cancer in first-And/or second-degree relatives; having breast and ovarian cancer in the same individual or bilateral breast cancer; having early-onset breast cancer or ovarian cancer (40 years of age). We identified 67 pathogenic variants in 66 (30.0%) patients. Of these, 19 (28.3%) occurred in BRCA1, 16 (23.9%) in BRCA2, 7 (10.4%) in PALB2, 6 (9.0%) in TP53, 2 (3.0%) in PTEN, 2 (3.0%) in CDH1 and 15 (22.4%) in other predisposition genes. Notably, 47.8% of pathogenic variants were in non-BRCA1/2 genes. Of the 66 patients with pathogenic mutations, 63.6% (42/66) were under the age of 40 years. Family history of breast and/or ovarian cancer is enriched in patients with BRCA1/2 pathogenic variants but less predictive for non-BRCA1/2 related pathogenic variations. We detected a median of three variants of unknown significance (VUS) per gene (range 0-21). Custom gene panel testing is feasible and useful for the detection of pathogenic mutations and should be done in the setting of a formal clinical cancer genetics service given the rate of VUS. © 2016 Center of Excellence in Genomic Medicine Research/Macmillan Publishers Limited.
Source Title: npj Genomic Medicine
ISSN: 20567944
DOI: 10.1038/npjgenmed.2015.3
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