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

Nakagomi,Hiroshi; Hirotsu,Yosuke; Okimoto,Kenichiro; Sakamoto,Ikuko; Amemiya,Kenji; Nakagomi,Satoko; Kubota,Takeo; Mochizuki,Hitoshi; Omata,Masao

doi:10.3892/mco.2017.1189

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

Authors:
- Hiroshi Nakagomi
- Yosuke Hirotsu
- Kenichiro Okimoto
- Ikuko Sakamoto
- Kenji Amemiya
- Satoko Nakagomi
- Takeo Kubota
- Hitoshi Mochizuki
- Masao Omata
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Affiliations: 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
Published online on: March 9, 2017 https://doi.org/10.3892/mco.2017.1189
Pages: 556-560

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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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