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      PALB2 mutation in a woman with bilateral breast cancer: A case report

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          Abstract

          Partner and localizer of breast cancer 2 ( PALB2) was identified as a moderate-risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer, according to the National Comprehensive Cancer Network (NCCN) criteria. In the present study, one patient with a deleterious mutation of PALB2 (c. 2834+2 T>C) has been identified from a study of an additional 128 cases. Therefore, the prevalence of PALB2 among Japanese patients is now estimated to be 0.35% (1/283). The proband was a 63-year-old woman with bilateral breast cancer, although she had experienced no other cancers. The proband had two elder sisters, the eldest of whom died from pancreatic cancer at 60 years of age. The proband's 40-year-old daughter was affected, but did not show any malignancies. There are only a few reports concerning PALB2 mutations in Japan. To the best of our knowledge, this is the first case study to reveal the significance of DNA-repair genes in the development of malignancies in Japanese patients with breast cancer.

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          Author and article information

          Journal
          Mol Clin Oncol
          Mol Clin Oncol
          MCO
          Molecular and Clinical Oncology
          D.A. Spandidos
          2049-9450
          2049-9469
          April 2017
          09 March 2017
          09 March 2017
          : 6
          : 4
          : 556-560
          Affiliations
          [1 ]Department of Breast Surgery, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400-8506, Japan
          [2 ]Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400-8506, Japan
          [3 ]Department of Gynecology, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400-8506, Japan
          [4 ]Department of Gastroenterology and Nephrology, Chiba University, Chiba 260-8677, Japan
          [5 ]Graduate School of Interdisciplinary Research, University of Yamanashi, Kofu, Yamanashi 400-8511, Japan
          [6 ]Yamanashi Prefecture Red Cross Blood Center, Japanese Red Cross Society, Kofu, Yamanashi 409-3898, Japan
          [7 ]Graduate School of Medicine, University of Tokyo, Bunkyo, Tokyo 113-8655, Japan
          Author notes
          Correspondence to: Dr Hiroshi Nakagomi, Department of Breast Surgery, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-8506, Japan, E-mail: h-nakagomi@ 123456ych.pref.yamanashi.jp
          Dr Yosuke Hirotsu, Genome Analysis Center, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-8506, Japan, E-mail: hirotsu-bdyu@ 123456ych.pref.yamanashi.jp
          [*]

          Contributed equally

          Article
          PMC5374944 PMC5374944 5374944 MCO-0-0-1189
          10.3892/mco.2017.1189
          5374944
          28413668
          e47e9e24-050e-4c2d-88f9-41f3dde617ef
          Copyright © 2017, Spandidos Publications
          History
          : 23 November 2016
          : 08 February 2017
          Categories
          Articles

          case report,Japanese,breast cancer,pancreas cancer, PALB2
          case report, Japanese, breast cancer, pancreas cancer, PALB2

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