Section of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and Santa Chiara University Hospital, Pisa, Italy.
Fam Cancer. 2010 Dec;9(4):531-6. doi: 10.1007/s10689-010-9382-1.
Rare germline monoallelic mutations in PALB2 confer a relative risk of breast cancer of 2 to 4-times. To better define the role of PALB2 in breast cancer susceptibility in Italian breast or breast-ovarian cancer families we screened 95 index cases negative for BRCA1/BRCA2 germline mutations. The mutational analysis of the PALB2 gene in a index case of an high risk breast cancer family, has identified a frameshift mutation (c.1517delG) in the exon 4 that leads to the formation of a stop codon, 12 residues downstream of the mutation (Leu451X). The mutation was identified in a woman 52 year old with an infiltrating ductal breast carcinoma and in two of the three sisters without breast cancer. Our results confirmed that PALB2 could be a susceptibility gene for familial breast cancer also in Italian population.
PALB2 种系单等位基因突变罕见，其导致乳腺癌的相对风险为 2 至 4 倍。为了更好地确定 PALB2 在意大利乳腺癌或乳腺癌-卵巢癌家族中的乳腺癌易感性中的作用，我们对 95 名 BRCA1/BRCA2 种系突变阴性的指数病例进行了筛查。对一名高危乳腺癌家族的指数病例的 PALB2 基因突变分析，发现外显子 4 中的框移突变（c.1517delG）导致在突变下游 12 个残基处形成终止密码子（Leu451X）。该突变发生在一名 52 岁患有浸润性导管乳腺癌的女性和三名无乳腺癌姐妹中的两名中。我们的研究结果证实，PALB2 也可能是意大利人群中家族性乳腺癌的易感基因。
