Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next- Generation Sequencing on a Four-Gene Panel Ava Kwong, Vivian Y. Shin,

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Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next- Generation Sequencing on a Four-Gene Panel Ava Kwong, Vivian Y. Shin, Chun H. Au, Fian B.F. Law, Dona N. Ho, Bui K. Ip, Anthony T.C. Wong, Silvia S. Lau, Rene M.Y. To, Gigi Choy, James M. Ford, Edmond S.K. Ma, Tsun L. Chan The Journal of Molecular Diagnostics Volume 18, Issue 4, Pages 580-594 (July 2016) DOI: 10.1016/j.jmoldx.2016.03.005 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 A schematic workflow of the mutation screening in this study. AVA, Amplicon Variant Analyzer; MLPA, multiplex ligation-dependent probe amplification; NGS, next-generation sequencing. The Journal of Molecular Diagnostics 2016 18, 580-594DOI: (10.1016/j.jmoldx.2016.03.005) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Distribution of pyrosequencing signal intensity. Representative homopolymer at BRCA2 c.9097 is shown as an example. A positive control sample with BRCA2 c.9097dupA mutation was represented by red circles (A9/A8). A wild-type sample is represented by green circles (A8/A8). Other wild-type samples (black dots) are also shown. Orange dashed lines represent 1.5 interquartile ranges above third quartile. Each sample is represented by one dot in each signal intensity group. The Journal of Molecular Diagnostics 2016 18, 580-594DOI: (10.1016/j.jmoldx.2016.03.005) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions