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本文引用的文献

1
Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.美国男性乳腺癌病例中 BRCA2 和 PALB2 的突变。
Breast Cancer Res Treat. 2011 Apr;126(3):771-8. doi: 10.1007/s10549-010-1195-2. Epub 2010 Oct 7.
2
PALB2/FANCN: recombining cancer and Fanconi anemia.PALB2/FANCN：重组癌症与范可尼贫血。
Cancer Res. 2010 Oct 1;70(19):7353-9. doi: 10.1158/0008-5472.CAN-10-1012. Epub 2010 Sep 21.
3
PALB2: a novel inactivating mutation in a Italian breast cancer family.PALB2：一个意大利乳腺癌家族中的新型失活突变。
Fam Cancer. 2010 Dec;9(4):531-6. doi: 10.1007/s10689-010-9382-1.
4
Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer.评估三种乳腺癌易感基因CHEK2、STK11和PALB2在非BRCA1/2的法裔加拿大高危乳腺癌家族中的作用。
Genet Test Mol Biomarkers. 2010 Aug;14(4):515-26. doi: 10.1089/gtmb.2010.0027.
5
PALB2 analysis in BRCA2-like families.PALB2 分析在 BRCA2 样家族中。
Breast Cancer Res Treat. 2011 Jun;127(2):357-62. doi: 10.1007/s10549-010-1001-1. Epub 2010 Jun 26.
6
PALB2 mutations in European familial pancreatic cancer families.欧洲家族性胰腺癌家系中的 PALB2 突变。
Clin Genet. 2010 Nov;78(5):490-4. doi: 10.1111/j.1399-0004.2010.01425.x.
7
Evaluating cancer epidemiologic risk factors using multiple primary malignancies.利用多重原发性恶性肿瘤评估癌症流行病学风险因素。
Epidemiology. 2010 May;21(3):366-72. doi: 10.1097/EDE.0b013e3181cc8871.
8
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.波兰乳腺癌和卵巢癌患者中新发种系 PALB2 缺失
BMC Med Genet. 2010 Feb 2;11:20. doi: 10.1186/1471-2350-11-20.
9
Are PALB2 mutations associated with increased risk of male breast cancer?PALB2基因突变是否与男性乳腺癌风险增加有关？
Breast Cancer Res Treat. 2010 May;121(1):253-5. doi: 10.1007/s10549-009-0673-x. Epub 2009 Dec 20.
10
BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications.BRCA1 和 BRCA2 基因突变与种族和民族：分布及临床意义。
Curr Opin Obstet Gynecol. 2010 Feb;22(1):72-8. doi: 10.1097/GCO.0b013e328332dca3.

德国和俄罗斯双侧乳腺癌患者中 PALB2 突变。

PALB2 mutations in German and Russian patients with bilateral breast cancer.

机构信息

Gynecology Research Unit, Hannover Medical School, Hannover, Germany.

出版信息

Breast Cancer Res Treat. 2011 Apr;126(2):545-50. doi: 10.1007/s10549-010-1290-4. Epub 2010 Dec 17.

DOI:10.1007/s10549-010-1290-4
PMID:21165770
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3291835/
Abstract

Since germline mutations in the PALB2 (Partner and Localizer of BRCA2) gene have been identified as breast cancer (BC) susceptibility alleles, the geographical spread and risks associated with PALB2 mutations are subject of intense investigation. Patients with bilateral breast cancer constitute a valuable group for genetic studies. We have thus scanned the whole coding region of PALB2 in a total of 203 German or Russian bilateral breast cancer patients using an approach based on high-resolution melting analysis and direct sequencing of genomic DNA samples. Truncating PALB2 mutations were identified in 4/203 (2%) breast cancer patients with bilateral disease. The two nonsense mutations, p.E545X and p.Q921X, have not been previously described whereas the two other mutations, p.R414X and c.509_510delGA, are recurrent. Our results indicate that PALB2 germline mutations account for a small, but not negligible, proportion of bilateral breast carcinomas in German and Russian populations.

摘要

由于 PALB2（BRCA2 伴侣和定位子）基因的种系突变已被确定为乳腺癌（BC）易感等位基因，因此 PALB2 突变的地理分布和相关风险是深入研究的主题。双侧乳腺癌患者是遗传研究的有价值群体。因此，我们使用基于高分辨率熔解分析和直接测序基因组 DNA 样本的方法，在总共 203 名德国或俄罗斯双侧乳腺癌患者中扫描了 PALB2 的整个编码区。在 4/203（2%）双侧疾病的乳腺癌患者中发现了截断的 PALB2 突变。这两个无意义突变，p.E545X 和 p.Q921X，以前没有描述过，而另外两个突变，p.R414X 和 c.509_510delGA，是复发性的。我们的结果表明，PALB2 种系突变在德国和俄罗斯人群中占双侧乳腺癌的一小部分，但并非微不足道。