TY - JOUR AB - 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. AD - Department of Breast Surgery, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400‑8506, Japan Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400‑8506, Japan Department of Gynecology, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400‑8506, Japan Graduate School of Interdisciplinary Research, University of Yamanashi, Kofu, Yamanashi 400‑8511, Japan Yamanashi Prefecture Red Cross Blood Center, Japanese Red Cross Society, Kofu, Yamanashi 409‑3898, Japan AU - Nakagomi,Hiroshi AU - Hirotsu,Yosuke AU - Okimoto,Kenichiro AU - Sakamoto,Ikuko AU - Amemiya,Kenji AU - Nakagomi,Satoko AU - Kubota,Takeo AU - Mochizuki,Hitoshi AU - Omata,Masao DA - 2017/04/01 DO - 10.3892/mco.2017.1189 EP - 560 IS - 4 JO - Mol Clin Oncol KW - PALB2 Japanese breast cancer pancreas cancer case report PY - 2017 SN - 2049-9450 2049-9469 SP - 556 ST - PALB2 mutation in a woman with bilateral breast cancer: A case report T2 - Molecular and Clinical Oncology TI - PALB2 mutation in a woman with bilateral breast cancer: A case report UR - https://doi.org/10.3892/mco.2017.1189 VL - 6 ER -