Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next‐generation sequencing. Issue 2 (4th December 2014)

• Record Type: Journal Article
• Authors: Hirotsu, Yosuke; Nakagomi, Hiroshi; Sakamoto, Ikuko; Amemiya, Kenji; Mochizuki, Hitoshi; Omata, Masao
• Is Part Of: Molecular genetics & genomic medicine. Volume 3:Issue 2(2015:Mar.)
• Page Start: 121
• Page End: 129
• Publication Date: 2014-12-04
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.120
• Languages: English
• ISSNs: 2324-9269

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="mgg3120-abs-0002"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>BRCA1</italic> and <italic>BRCA2</italic> are tumor suppressor genes associated with the hereditary risk of breast and ovarian cancer. We analyzed both genes in 135 Japanese patients with breast and/or ovarian cancer using next‐generation sequencing (NGS) and validated by Sanger sequencing in our study and an independent laboratory, and the technique was shown to be sufficiently sensitive to detect BRCA germline mutations distributed throughout the genes. Moreover, two unaffected relatives were found to carry the identical causative <italic>BRCA2</italic> mutation to one of the probands, indicating a role for NGS in aiding cancer prevention in such individuals. <boxed-text content-type="graphic" id="mgg3120-blkfxd-0001" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj5jh8fxf" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>