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Article

Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.

Breast cancer research and treatment - 1 Jun 2012

Rath Michelle G, Fathali-Zadeh Farnoosh, Langheinz Anne, Tchatchou Sandrine, Voigtländer Theda, Heil Jörg, Golatta Michael, Schott Sarah, Drasseck Teresa, Behnecke Anne, Burgemeister Anna-Lena, Evers Christina, Bugert Peter, Junkermann Hans, Schneeweiss Andreas, Bartram Claus R, Sohn Christof, Sutter Christian, Burwinkel Barbara

Abstract excerpt

In this study, we analyzed a "variant of uncertain significance" (VUS) located in exon 23 of the BRCA2 gene exhibited by six members of five distinct families with hereditary breast cancer (BC). The variant was identified by DNA sequencing, and cDNA analysis revealed its co-expression with wild-type mRNA. We analyzed co-occurrence with other pathological mutations in BRCA1/2, performed a case-control study,...

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Source

Identifiers

PMID: 22228431
DOI: 10.1007/s10549-011-1917-0

Genes

BRCA2
BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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