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Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

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  1. Ovarian removal at or after benign hysterectomy and breast cancer: a nationwide cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Risk of breast cancer among women with benign ovarian tumors: a Danish nationwide cohort study

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Germ-line mutations in BRCA2 predispose to breast and ovarian cancer. Mutations are widespread throughout the gene and include disease-causing mutations as frameshift, nonsense, splicing mutations and large genomic rearrangements. However a large number of mutations, including missense, silent and intron variants are of unknown significance. Here, we describe the functional characterization of a silent mutation (nucleotide 744 G --> A/c.516 G --> A, Lys172Lys) in exon 6 of BRCA2 in a Danish family with breast and ovarian cancer. Exon trapping analysis showed that the mutation results in skipping of exon 6 and/or both exon 5 and 6, which was verified by RT-PCR analysis on RNA isolated from whole blood of the affected patient. We therefore conclude that the BRCA2 silent mutation Lys172Lys is a disease-causing mutation.
OriginalsprogEngelsk
TidsskriftBreast Cancer Research and Treatment
Vol/bind119
Udgave nummer3
Sider (fra-til)547-50
Antal sider4
ISSN0167-6806
DOI
StatusUdgivet - 1 feb. 2010

ID: 31046426