The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

doi:10.1093/carcin/bgt272

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The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

Carcinogenesis - 1 Nov 2013

Infante Mar, Durán Mercedes, Acedo Alberto, Sánchez-Tapia Eva María, Díez-Gómez Beatriz, Barroso Alicia, García-González María, Feliubadaló Lídia, Lasa Adriana, de la Hoya Miguel, Esteban-Cardeñosa Eva, Díez Orland, Martínez-Bouzas Cristina, Godino Javier, Teulé Alexandre, Osorio Ana, Lastra Enrique, González-Sarmiento Rogelio, Miner Cristina, Velasco Eladio A

Abstract excerpt

BRCA2-c.2808_2811del (3036delACAA) is one of the most reported germ line mutations in non-Ashkenazi breast cancer patients. We investigated its genetic origin in 51 Spanish carrier families that were genotyped with 11 13q polymorphic markers. Three independent associated haplotypes were clearly distinguished accounting for 23 [west Castilla y León (WCL)], 20 [east Castilla y León (ECL)] and 6 (South of Spain)...

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PMID: 23929434
DOI: 10.1093/carcin/bgt272

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BRCA2
BRCA1

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