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

Thomas V O Hansen; Ane Y Steffensen; Lars Jønson; Mette K Andersen; Bent Ejlertsen; Finn C Nielsen

doi:10.1007/s10549-009-0359-4

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

Thomas V O Hansen, Ane Y Steffensen, Lars Jønson, Mette K Andersen, Bent Ejlertsen, Finn C Nielsen

20 Citations (Scopus)

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.

Original language	English
Journal	Breast Cancer Research and Treatment
Volume	119
Issue number	3
Pages (from-to)	547-50
Number of pages	4
ISSN	0167-6806
DOIs	https://doi.org/10.1007/s10549-009-0359-4
Publication status	Published - 2009

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@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}",

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doi = "10.1007/s10549-009-0359-4",

language = "English",

volume = "119",

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journal = "Breast Cancer Research and Treatment",

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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

SN - 0167-6806

VL - 119

SP - 547

EP - 550

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 3

ER -

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

Abstract

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