Haplotype Analysis of the BRCA2 9254delATCAT Recurrent Mutation in Breast/Ovarian Cancer Families from Spain

被引：17

作者：

Campos, Berta ^{[1
]}

Diez, Orland ^{[1
]}

Odefrey, Fabrice ^{[3
]}

Domenech, Montserrat ^{[1
]}

Moncoutier, Virginie ^{[4
]}

Ignacio Martinez-Ferrandis, Jose ^{[5
]}

Osorio, Ana ^{[6
]}

Balmana, Judith ^{[2
]}

Barroso, Alicia ^{[6
]}

Eugenia Armengod, Maria ^{[5
]}

Benitez, Javier ^{[6
]}

Alonso, Carmen ^{[2
]}

Stoppa-Lyonnet, Dominique ^{[4
]}

Goldgar, David ^{[3
]}

Baiget, Montserrat ^{[1
]}

机构：

[1] Hosp Santa Creu & Sant Pau, Serv Genet, C Antonio Maria Claret 167, Barcelona 08025, Spain

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

[3] Int Agcy Res Canc, Unit Genet Epidemiol, Lyon, France

[4] Inst Curie, Unite Genet Oncol, Paris, France

[5] Inst Invest Citological Caja Ahorros Valencia, Valencia, Spain

[6] Ctr Nacl Invest Oncol, Madrid, Spain

来源：

HUMAN MUTATION | 2003年 / 21卷 / 04期

关键词：

BRCA2; hereditary breast cancer; haplotype; founder mutation;

D O I：

10.1002/humu.9133

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2 polymorphisms were used for the haplotype analyses. The markers were located flanking the BRCA2 gene spanning a region of 6.1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations. (c) 2003 Wiley-Liss, Inc.

引用

页数：6

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