A novel BRCA1 mutation in a Spanish patient with ovarian cancer

被引：1

作者：

Salgado, Josefa ^{[1
]}

Gil, Carmen ^{[1
]}

Robles, Maitane ^{[1
]}

Garcia-Foncillas, Jesus ^{[1
,2
]}

机构：

[1] Univ Navarra Clin, Clin Genet Unit, Navarra, Spain

[2] Ctr Appl Med Res CIMA, Lab Pharmacogenom, Navarra, Spain

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2009年 / 113卷 / 01期

关键词：

BRCA1; Direct automatic sequencing; Germline mutation; Ovarian cancer; BINDING; SUSCEPTIBILITY; COMPLEX;

D O I：

10.1007/s10549-008-9907-6

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We report a novel germline 3536delT mutation in BRCA1 gene, detected in a 43-year-old woman with bilateral ovarian adenocarcinoma. The mutation originates a premature stop codon at position 1154 and has not been documented in any published report to the best of our knowledge.

引用

页码：71 / 73

页数：3

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