Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated
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DOI：
10.1038/ejhg.2011.226
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发表时间：
2012-05-01
影响因子：
5.2
通讯作者：
Bruno, Marco J.
中科院分区：
文献类型：
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作者：
Harinck, Femme;Kluijt, Irma;Bruno, Marco J.
PALB 2突变携带者不仅患乳腺癌（BC）的风险增加，而且患胰腺癌（PC）的风险也增加。到目前为止，PALB 2突变主要在来自PC和BC家族的PC患者中发现。众所周知，基因突变的患病率在不同人群之间存在差异，我们研究了荷兰非BRCA 1/2家族性PC（FPC）家族和至少有一个PC病例的非BRCA 1/2家族性BC（FBC）家族中PALB 2突变的患病率。突变分析包括直接测序和多重连接依赖探针扩增（MLPA），并在来自56个不同家族（28个FPC家族，28个FBC家族）的64例患者中进行。共有31例患者（48%）来自FPC家族; 24例为FPC患者（77%），6例有BC个人史（19%），1例为疑似携带者（3.2%）。其余33例患者（52%）均为女性BC患者，其中31例（94%）有PC家族史，2例（6.1%）有PC个人史。在这64例患者中没有发现PALB 2突变，因此，在荷兰人群中，PALB 2在非BRCA 1/2家族的PC和BC家族聚集中没有主要的因果作用。European Journal of Human Genetics（2012）20，577-579; doi：10.1038/ejhg.2011.226; 2011年12月14日在线发表
PALB2-mutation carriers not only have an increased risk for breast cancer (BC) but also for pancreatic cancer (PC). Thus far, PALB2 mutations have been mainly found in PC patients from families affected by both PC and BC. As it is well known that the prevalence of gene mutations varies between different populations, we studied the prevalence of PALB2 mutations in a Dutch cohort of non-BRCA1/2 familial PC (FPC) families and in non-BRCA1/2 familial BC (FBC) families with at least one PC case. Mutation analysis included direct sequencing and multiplex ligation-dependent probe amplification (MLPA) and was performed in a total of 64 patients from 56 distinct families (28 FPC families, 28 FBC families). In total, 31 patients (48%) originated from FPC families; 24 were FPC patients (77%), 6 had a personal history of BC (19%) and 1 was a suspected carrier (3.2%). The remaining 33 patients (52%) were all female BC patients of whom 31 (94%) had a family history of PC and 2 (6.1%) had a personal history of PC. In none of these 64 patients a PALB2 mutation was found. Therefore, PALB2 does not have a major causal role in familial clustering of PC and BC in non-BRCA1/2 families in the Dutch population. European Journal of Human Genetics (2012) 20, 577-579; doi:10.1038/ejhg.2011.226; published online 14 December 2011