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Article

Two founder BRCA2 mutations predispose to breast cancer in young women.

Breast cancer research and treatment - 1 Jul 2010

Infante Mar, Durán Mercedes, Lasa Adriana, Acedo Alberto, de la Hoya Miguel, Esteban-Cardeñosa Eva, Sanz David J, Pérez-Cabornero Lucia, Lastra Enrique, Miner Cristina, Velasco Eladio A

Abstract excerpt

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-León (Spain) representing 10.6% of BRCA2 positive families. By genotyping eleven chromosome 13 markers (4.3 Mb) we demonstrate that each mutation shows core...

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Identifiers

PMID: 19949853
DOI: 10.1007/s10549-009-0661-1

Genes

BRCA2
BRCA1

Provenance

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