A PALB2 germline mutation associated with hereditary breast cancer in Italy
A PALB2 germline mutation associated with hereditary breast cancer in Italy
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DOI：
10.1007/s10689-009-9295-z
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发表时间：
2010-06-01
期刊：
影响因子：
2.2
通讯作者：
Palli, Domenico
中科院分区：
文献类型：
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作者：
Papi, Laura;Putignano, Anna Laura;Palli, Domenico
最近，已经证明单等位基因PALB 2突变易患家族性乳腺癌。我们调查了132个意大利BRCA 1/BRCA 2阴性乳腺癌家族中PALB 2突变的贡献;在一名妇女和她的女儿中发现了一个截短的PALB 2突变c.2257C > T，导致p.Arg753X，分别在60岁和31岁诊断为乳腺癌。这项研究支持了最近的观察结果，即PALB 2突变存在于家族性BRCA 1/BRCA 2阴性乳腺癌病例中，尽管不常见;此外，它支持了一些PALB 2突变与乳腺癌风险大幅增加相关的最新证据。
Recently, it has been demonstrated that monoallelic PALB2 mutations predispose to familial breast cancer. We investigated the contribution of PALB2 mutations in a set of 132 Italian BRCA1/BRCA2-negative breast cancer families; one truncating PALB2 mutation, c.2257C > T, resulting in p.Arg753X, was identified in a woman and her daughter, with breast cancer diagnosed at 60 and 31 years old, respectively. This study supports the recent observation that PALB2 mutation are present, although infrequently, in familial BRCA1/BRCA2-negative breast cancer cases; moreover, it sustains latest evidences that some PALB2 mutations are associated with a substantially increased risk of breast cancer.