Work

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

Year: 2003

Type: article

Abstract: 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.

Source: Human Mutation

DOI: 10.1002/humu.9133

Authors: Berta Campos, Orland Díez, Fabrice Odefrey, Montserrat Domènech, Virginie Moncoutier, José Ignacio Martínez-Ferrandis, Ana Osorio, Judith Balmaña, Alicia Barroso, María Eugenia Armengod, Javier Benítez, Carmen Alonso, Dominique Stoppa-Lyonnet, David Goldgar, Montserrat Baiget

Institutions: Hospital de Sant Pau, Centre international de recherche sur le cancer, Institut Curie, Spanish National Cancer Research Centre

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2090275404

FWCI: 0.89

Cites: 19

Cited by: 23

Related to: 10