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

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Standard

The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. / Hansen, Thomas V O; Steffensen, Ane Y; Jønson, Lars; Andersen, Mette K; Ejlertsen, Bent; Nielsen, Finn C.

In: Breast Cancer Research and Treatment, Vol. 119, No. 3, 2009, p. 547-50.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Hansen, TVO, Steffensen, AY, Jønson, L, Andersen, MK, Ejlertsen, B & Nielsen, FC 2009, 'The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping', Breast Cancer Research and Treatment, vol. 119, no. 3, pp. 547-50. https://doi.org/10.1007/s10549-009-0359-4

APA

Hansen, T. V. O., Steffensen, A. Y., Jønson, L., Andersen, M. K., Ejlertsen, B., & Nielsen, F. C. (2009). The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. Breast Cancer Research and Treatment, 119(3), 547-50. https://doi.org/10.1007/s10549-009-0359-4

Vancouver

Hansen TVO, Steffensen AY, Jønson L, Andersen MK, Ejlertsen B, Nielsen FC. The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. Breast Cancer Research and Treatment. 2009;119(3):547-50. https://doi.org/10.1007/s10549-009-0359-4

Author

Hansen, Thomas V O ; Steffensen, Ane Y ; Jønson, Lars ; Andersen, Mette K ; Ejlertsen, Bent ; Nielsen, Finn C. / The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. In: Breast Cancer Research and Treatment. 2009 ; Vol. 119, No. 3. pp. 547-50.

Bibtex

@article{240b84c0359811df8ed1000ea68e967b,
title = "The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping",
abstract = "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.",
author = "Hansen, {Thomas V O} and Steffensen, {Ane Y} and Lars J{\o}nson and Andersen, {Mette K} and Bent Ejlertsen and Nielsen, {Finn C}",
year = "2009",
doi = "10.1007/s10549-009-0359-4",
language = "English",
volume = "119",
pages = "547--50",
journal = "Breast Cancer Research and Treatment",
issn = "0167-6806",
publisher = "Springer",
number = "3",

}

RIS

TY - JOUR

T1 - The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

AU - Hansen, Thomas V O

AU - Steffensen, Ane Y

AU - Jønson, Lars

AU - Andersen, Mette K

AU - Ejlertsen, Bent

AU - Nielsen, Finn C

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

U2 - 10.1007/s10549-009-0359-4

DO - 10.1007/s10549-009-0359-4

M3 - Journal article

C2 - 19267246

VL - 119

SP - 547

EP - 550

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

SN - 0167-6806

IS - 3

ER -

ID: 18763772