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
收藏
页码：71 / 73
页数：3
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