Absence of germline BRCA1 mutations in familial pancreatic cancer patients.
Absence of germline BRCA1 mutations in familial pancreatic cancer patients.
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DOI：
10.4161/cbt.8.2.7136
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发表时间：
2009-01
影响因子：
3.6
通讯作者：
Klein AP
中科院分区：
文献类型：
--
作者：
Axilbund JE;Argani P;Kamiyama M;Palmisano E;Raben M;Borges M;Brune KA;Goggins M;Hruban RH;Klein AP
最近的研究表明，BRCA1基因的胚系突变可能会增加患胰腺癌的风险。为了确定BRCA1突变是否解释了家族性胰腺癌的很大比例，我们对一大系列特征良好的家族性胰腺癌患者的BRCA1基因进行了测序，并评估了胰腺癌患者亲属发生的乳腺癌的病理学。在国家家族性胰腺肿瘤登记处登记的66名胰腺癌患者中，BRCA1基因被完全测序，这些患者至少还有两名患有胰腺癌的亲属。66例家族性胰腺癌患者(0/66：97.5%，单侧可信区间0~0.054%)均未发现BRCA1基因恶性突变。虽然不是根据乳腺癌和卵巢癌的家族史来选择患者，但对样本进行测序的患者中，超过一半的人报告了乳腺癌和/或卵巢癌的家族史。我们的发现表明，BRCA1基因突变在胰腺癌聚集性家族中不是很普遍，甚至不是中等流行，包括报告有乳腺癌和/或卵巢癌家族史的胰腺癌家族。
Recent studies have suggested that germ line mutations in the BRCA1 gene may confer an increased risk of developing pancreatic cancer. To determine if BRCA1 mutations explain a significant proportion of familial pancreatic cancer, we sequenced the BRCA1 gene in a large series of well-characterized patients with familial pancreatic cancer and we evaluated the pathology of breast neoplasms that developed in relatives of pancreatic cancer patients. The BRCA1 gene was fully sequenced in 66 pancreatic cancer patients enrolled in the National Familial Pancreas Tumor Registry who had at least two additional relatives with pancreatic cancer. None of the 66 (0/66: 97.5% one-side CI 0–0.054%) familial pancreatic cancer patients were found to have a deleterious mutation in the BRCA1 gene. While patients were not selected based upon their family history of breast and ovarian cancer, over half of the patients whose samples were sequenced reported a family history of breast and/or ovarian cancer. Our findings suggest that mutations in the BRCA1 gene are not highly, or even moderately, prevalent in families with a clustering of pancreatic cancer, including pancreatic cancer families who report a family history of breast and/or ovarian cancer.
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DOI：
10.1093/jnci/94.18.1365
发表时间：
2002-09-18
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Brose, MS;Rebbeck, TR;Weber, BL
通讯作者：
Weber, BL
影响因子：
1.7
作者：
Axilbund JE;Brune KA;Canto MI;Brehon BC;Wroblewski LD;Griffin CA
通讯作者：
Griffin CA
影响因子：
10.3
作者：
Hahn, SA;Greenhalf, B;Bartsch, DK
通讯作者：
Bartsch, DK
影响因子：
158.5
作者：
GOLDSTEIN, AM;FRASER, MC;TUCKER, MA
通讯作者：
TUCKER, MA
影响因子：
11.2
作者：
Klein, AP;Brune, KA;Hruban, RH
通讯作者：
Hruban, RH