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Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

Breast cancer research and treatment - 1 Jun 2014

Surowy Harald Martin, Sutter Christian, Mittnacht Max, Klaes Ruediger, Schaefer Dieter, Evers Christina, Burgemeister Anna Lena, Goehringer Caroline, Dikow Nicola, Heil Joerg, Golatta Michael, Schott Sarah, Schneeweiss Andreas, Bugert Peter, Sohn Christof, Bartram Claus Rainer, Burwinkel Barbara

Abstract excerpt

Variants of uncertain clinical significance (VUS) in the high-penetrance breast cancer susceptibility genes BRCA1 and BRCA2 represent a major obstacle in genetic counseling of high-risk breast cancer families. We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.9371A > T) present in seven independent high-risk breast cancer families that were counseled and genetically tested in South-West...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24728577
DOI: 10.1007/s10549-014-2943-5

Genes

BRCA2
BRCA1

Variants

Provenance

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