BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.
BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.
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160 名个体的 BRCA1 序列变异被转诊至乳腺癌/卵巢家庭癌症诊所。
DOI：
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发表时间：
1997
影响因子：
9.8
通讯作者：
Catherine Bonalti
中科院分区：
文献类型：
--
作者：
Dominique;Stoppa;Pierre Laurent;L. Essioux;S. Pagès;Ghislaine Ithier;L. Ligot;A. Fourquet;R. Salmon;B. Krishna;Clough;P. Pouillart;Catherine Bonalti
随着BRCA1种系突变的鉴定，对乳腺癌/卵巢癌家族聚集性的解释成为可能。我们评估了249个在巴黎居里研究所登记的个体，个体携带易患这些疾病的突变的先验概率。我们选择了160名女性进行BRCA1分析：103名女性有乳腺癌家族史，57名女性有乳腺癌家族史。为了检测小突变，我们使用变性梯度凝胶电泳技术生成并分析了覆盖基因编码部分的35个重叠的基因组PCR产物。38个截断突变（32个帧移，4个无义突变和2个剪接变异）在15%的仅有乳腺癌家族史的妇女和40%的有乳腺癌家族史的妇女中被观察到。鉴定出的25个不同的截断突变中有12个是新的和独特的。大多数BRCA1突变在乳腺癌信息核心中被报道了5次以上，在我们的系列中都出现了。一个突变（5149del4）在两个明显不相关的家族中被观察到，很可能来自一个共同的祖先。截断突变的位置对乳腺癌风险与卵巢癌风险之比没有显著影响。此外，鉴定出15个DNA变异（14个错义突变和1个中性突变），其中9个为新突变。间接证据表明，其中7个突变是有害的。
An account of familial aggregation in breast/ovarian cancer has become possible with the identification of BRCA1 germ-line mutations. We evaluated, for 249 individuals registered with the Institut Curie in Paris, the prior probability that an individual carried a mutation that predisposes to these diseases. We chose 160 women for BRCA1 analysis: 103 with a family history of breast cancer and 57 with a family history of breast-ovarian cancer. To detect small mutations, we generated and analyzed 35 overlapping genomic PCR products that cover the coding portion of the gene, by using denaturing gradient gel electrophoresis. Thirty-eight truncating mutations (32 frameshifts, 4 nonsense mutations, and 2 splice variants) were observed in 15% of women with a family history of breast cancer only and in 40% of those with a history of breast-ovarian cancer. Twelve of 25 distinct truncating mutations identified were novel and unique. Most BRCA1 mutations that had been reported more than five times in the Breast Cancer Information Core were present in our series. One mutation (5149del4) observed in two apparently unrelated families most likely originates from a common ancestor. The position of truncating mutations did not significantly affect the ratio of the risk of breast cancer to that of ovarian cancer. In addition, 15 DNA variants (14 missense mutations and 1 neutral mutation) were identified, 9 of which were novel. Indirect evidence suggests that seven of these mutations are deleterious.
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影响因子：
56.9
作者：
FUTREAL, PA;LIU, QY;WISEMAN, R
通讯作者：
WISEMAN, R
对 BRCA1 乳腺癌和卵巢癌易感基因 80 个突变的合作调查。
DOI：
--
发表时间：
1995
期刊：
JAMA : the journal of the American Medical Association
影响因子：
--
作者：
Shattuck-Eidens,D;McClure,M;Simard,J;Labrie,F;Narod,S;Couch,F;Hoskins,K;Weber,B;Castilla,L;Erdos,M
通讯作者：
Erdos,M
影响因子：
9.8
作者：
E. Claus;N. Risch;W. Thompson
通讯作者：
E. Claus;N. Risch;W. Thompson
影响因子：
56.9
作者：
WOOSTER, R;NEUHAUSEN, SL;STRATTON, MR
通讯作者：
STRATTON, MR
DOI：
10.1073/pnas.86.1.232
发表时间：
1989-01-01
影响因子：
11.1
作者：
SHEFFIELD, VC;COX, DR;MYERS, RM
通讯作者：
MYERS, RM