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The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.

Breast cancer research and treatment - 1 Jan 2012

Cote Stephanie, Arcand Suzanna L, Royer Robert, Nolet Serge, Mes-Masson Anne-Marie, Ghadirian Parviz, Foulkes William D, Tischkowitz Marc, Narod Steven A, Provencher Diane, Tonin Patricia N

Abstract excerpt

Specific BRCA1 and BRCA2 mutations recur in French Canadian breast and/or ovarian cancer families because of common ancestors, facilitating carrier detection in this population. We recently reported a BRCA2 c.9004G>A variant of unknown clinical significance in two French Canadian breast cancer families. It confers a E3002K alteration in the conserved C-terminus domain of BRCA2, and has been reported in non-French...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21947752
DOI: 10.1007/s10549-011-1796-4

Genes

BRCA2
BRCA1
PALB2

Variants

Provenance

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