Two founder BRCA2 mutations predispose to breast cancer in young women

被引：7

作者：

Infante, Mar ^{[1
]}

Duran, Mercedes ^{[1
]}

Lasa, Adriana ^{[2
]}

Acedo, Alberto ^{[1
]}

de la Hoya, Miguel ^{[3
]}

Esteban-Cardenosa, Eva ^{[4
]}

Sanz, David J. ^{[1
]}

Perez-Cabornero, Lucia ^{[1
]}

Lastra, Enrique ^{[5
]}

Miner, Cristina ^{[1
]}

Velasco, Eladio A. ^{[1
]}

机构：

[1] UVa CSIC, Inst Biol & Genet Mol, Valladolid 47003, Spain

[2] Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona, Spain

[3] Hosp Clin San Carlos, Oncol Mol Lab, Inst Salud Carlos III, Spanish Minist Sci & Innovat, Madrid, Spain

[4] Hosp Univ La Fe, Serv Biopatol Clin, Mol Biol Lab, Valencia, Spain

[5] Complejo Hosp Burgos, Serv Oncol, Burgos, Spain

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2010年 / 122卷 / 02期

关键词：

BRCA1; BRCA2; Founder mutations; Hereditary breast cancer; CAPILLARY ARRAY ELECTROPHORESIS; HETERODUPLEX ANALYSIS; HIGH PROPORTION; GENES; SUSCEPTIBILITY; FAMILIES; HAPLOTYPE; SPAIN;

D O I：

10.1007/s10549-009-0661-1

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The mutation spectrum of BRCA1 and BRCA2 presents a wide range of unique mutations in breast/ovarian cancer patients but recurrent mutations with founder effects have also been described. BRCA2 5344delAATA and 9538delAA are recurrent mutations in Castilla-Len (Spain) representing 10.6% of BRCA2 positive families. By genotyping eleven chromosome 13 markers (4.3 Mb) we demonstrate that each mutation shows core haplotypes of 1.66 and 0.87 Mb, respectively, supporting a common ancestor in Castilla-Len. Furthermore, both mutations are associated with earlier onset of breast cancer (5344delAATA: 37.4 years, P = 0.033; 9538delAA: 39.4 years, P = 0.008). The identification of founder effects improves the genetic screening strategy to be followed and facilitates the clinical management of asymptomatic carriers.

引用

页码：567 / 571

页数：5

共 18 条

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