Identification of a Novel Pathogenic Mutation in BRCA2 in a Spanish Breast-Ovarian Cancer Family

Marta Rodriguez; Joan Brunet; Joan BorrasAsuncion TorresJosep Guma

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Identification of a Novel Pathogenic Mutation in BRCA2 in a Spanish Breast-Ovarian Cancer Family

机译：小说致病突变的识别BRCA2在西班牙Breast-Ovarian癌症家庭

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Germline mutations in the BRCA1/ 2 genes contribute to most of inherited breast and ovarian cancers. We analyzed a family fulfilling classical criteria of hereditary breast/ovarian cancer. After complete sequencing of coding regions and splice junctions of both genes, a nonpreviously reported mutation in BRCA2 was detected in the index case. Direct mutation detection was performed with their relatives, and three of them were also mutation carriers, two healthy males and a patient afflicted with borderline ovarian cancer. The c.2999delCT, consists of a deletion of two bases in exon 11, in the limits of the ovarian cancer cluster region. This is a frameshift mutation that causes a disruption of the translational reading frame resulting in a stop codon 10 amino acids downstream in the 934 position of the BRCA2 protein, causing a truncation protein. This often causes a loss of function in the protein as critical parts of the amino acid chain are no longer created. Because of it, this mutation must be classified as pathogenic and can be regarded as the cause of the cancers in this family.

机译：在BRCA1或brca2基因的种系突变导致大多数遗传性乳腺癌和卵巢癌。遗传性乳腺癌、卵巢癌的经典标准癌症。两个基因的区域和接头连接nonpreviously BRCA2突变是报道发现在索引的情况下。和他们的亲属进行检测,他们三个也突变携带者,两个健康的男性和一个病人患有边缘型卵巢癌。由两个基地在第11外显子的缺失,集群在卵巢癌的极限地区。中断的平动阅读框导致终止密码子10个氨基酸下游934 BRCA2的位置蛋白质,导致截断蛋白质。导致蛋白质功能的丧失没有氨基酸链的关键部分再创造。分为致病,可以认为在这个家族癌症的原因。

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《Genetic testing and molecular biomarkers》 |2009年第5期|631-634|共4页
作者
Marta Rodriguez; Joan Brunet; Joan BorrasAsuncion TorresJosep Guma;
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作者单位

lnstitut d'Investigacio Biomedica de Girona (IdIBG), Institut Catala d'Oncologia, Hospital Josep Trueta, Girona, Spain;

Departament de Medicina i Cirurgia, Universitat Rovira i Virgili, Reus, Spain;

Unitat de Consell Genetic, Fundacio Privada Lliga per a la Investigacio i Prevencio del Cancer, Reus, Spain;

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正文语种英语
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Germ-Line Mutation; Authentication; Ovary CancerReading FramesMutationBRCA2 ProteinSplice junctionsTerminator CodonInfectious Agentcancer familycritical parts;

机译：细胞突变;认证;子房CancerReading FramesMutationBRCA2 ProteinSplicejunctionsTerminator CodonInfectious Agentcancerfamilycritical部分;

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1. A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families. [J] . Vahteristo P, Eerola H, Tamminen ABlomqvist CNevanlinna H The British journal of cancer . 2001,第5期

机译：预测BRCA1和BRCA2的概率模型在乳腺癌和breast-ovarian癌症突变家庭。
2. Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons. [J] . Pages S, Caux V, Stoppa-Lyonnet DTosi M The British journal of cancer . 2001,第4期

机译：男性乳腺癌的筛查BRCA2 breast-ovarian癌症家庭使用大型bifluorescent突变扩增子。
3. Mutation of the gene encoding a major outer-membrane protein in Xanthomonas campestris pv. campestris causes pleiotropic effects, including loss of pathogenicity [O] . Chen, Y.Y., Wu, C.H., Lin, J.W., 2014

机译：mutation of the gene encoding a major outer-membrane protein in Xanthomonas campestris pv. campestris causes pleiotropic effects, including loss of pathogenicity

Identification of a Novel Pathogenic Mutation in BRCA2 in a Spanish Breast-Ovarian Cancer Family

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