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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.
摘要：
乳腺癌2（PALB2）的伴侣和定位基因被确定为乳腺癌和胰腺癌的中度风险基因。本作者先前报道，在155名估计有遗传性癌症风险的乳腺癌和/或卵巢癌日本患者中，未发现具有有害移码或终止密码子的PALB2种系突变。根据国家综合癌症网络（NCCN）标准。在本研究中,一名患有PALB2有害突变的患者（c。从对另外128例病例的研究中确定了2834+2T>C）。因此,目前,日本患者中PALB2的患病率估计为0.35%(1/283).先证者是一名患有双侧乳腺癌的63岁女性，尽管她没有经历过其他癌症。先证者有两个姐姐，其中年龄最大的人在60岁时死于胰腺癌。先证者40岁的女儿受到影响，但没有显示任何恶性肿瘤。在日本只有少数关于PALB2突变的报道。据我们所知,这是首次揭示DNA修复基因在日本乳腺癌患者恶性肿瘤发展中的意义的案例研究.
