BRCA2 mutation in Icelandic prostate cancer patients
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Molecular genetic analysis of prostate cancer has gained considerable attention in recent years. The hope is to find genetic markers that can help to determine which patients are likely to...
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Online Access: | http://hdl.handle.net/2336/111220 https://doi.org/10.1007/s001090050162 |
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/111220 2023-05-15T16:49:39+02:00 BRCA2 mutation in Icelandic prostate cancer patients Sigurdsson, S Thorlacius, S Tomasson, J Tryggvadottir, L Benediktsdottir, K Eyfjord, J E Jonsson, E Molecular and Cell Biology Research Laboratory, Icelandic Cancer Society, Reykjavik. 2010-09-16 http://hdl.handle.net/2336/111220 https://doi.org/10.1007/s001090050162 en eng Springer International http://dx.doi.org/10.1007/s001090050162 J. Mol. Med. 1997, 75(10):758-61 0946-2716 9383000 doi:10.1007/s001090050162 http://hdl.handle.net/2336/111220 Journal of molecular medicine (Berlin, Germany) Aged BRCA2 Protein Breast Neoplasms Male DNA Mutational Analysis DNA Primers Exons Female Genetic Markers Humans Iceland Middle Aged Neoplasm Proteins Neoplasm Staging Polymerase Chain Reaction Prostatic Neoplasms Risk Factors Sequence Deletion Survival Rate Transcription Factors Article 2010 ftlandspitaliuni https://doi.org/10.1007/s001090050162 2022-05-29T08:21:35Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Molecular genetic analysis of prostate cancer has gained considerable attention in recent years. The hope is to find genetic markers that can help to determine which patients are likely to develop a progressive or lethal disease and would therefore benefit from early treatment. The BRCA2 gene on chromosome 13 has been associated with familial male and female breast cancer. A founder mutation in this gene has been detected in the Icelandic population. This is a 5-bp deletion that leads to an early termination and truncated protein. Clustering of prostate cancers in some of the Icelandic BRCA2 families implies that mutation carriers are at increased risk of developing cancer of the prostate. The aim of the study was to investigate this mutation in Icelandic prostate cancer patients related to BRCA2 positive breast cancer probands and to estimate the prevalence of this mutation in unselected prostate cancer patients. To examine the potential role of this mutation in prostate cancer we analyzed prostate cancer cases from 16 BRCA2 families and all available samples from individuals diagnosed with prostate cancer in Iceland over a period of 1 year. The risk ratio of prostate cancer was 4.6 (1.9-8.8) in first-degree relatives and 2.5 (1.2-4.6) in second-degree relatives of the 16 BRCA2 positive breast cancer probands. Of 26 prostate cancer cases found in these families 12 were analyzed, and 8 of these (66.7%) had the BRCA2 mutation. All of these patients developed an advanced disease, and all have died of prostate cancer (median survival 22.5 months). Among unselected cases 3.1% (2/65) had the mutation and developed an advanced disease as well. This specific mutation in the BRCA2 gene is found in a subset of Icelandic prostate cancer cases and appears to be a marker for poor prognosis. Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Journal of Molecular Medicine 75 10 758 761 |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Aged BRCA2 Protein Breast Neoplasms Male DNA Mutational Analysis DNA Primers Exons Female Genetic Markers Humans Iceland Middle Aged Neoplasm Proteins Neoplasm Staging Polymerase Chain Reaction Prostatic Neoplasms Risk Factors Sequence Deletion Survival Rate Transcription Factors |
spellingShingle |
Aged BRCA2 Protein Breast Neoplasms Male DNA Mutational Analysis DNA Primers Exons Female Genetic Markers Humans Iceland Middle Aged Neoplasm Proteins Neoplasm Staging Polymerase Chain Reaction Prostatic Neoplasms Risk Factors Sequence Deletion Survival Rate Transcription Factors Sigurdsson, S Thorlacius, S Tomasson, J Tryggvadottir, L Benediktsdottir, K Eyfjord, J E Jonsson, E BRCA2 mutation in Icelandic prostate cancer patients |
topic_facet |
Aged BRCA2 Protein Breast Neoplasms Male DNA Mutational Analysis DNA Primers Exons Female Genetic Markers Humans Iceland Middle Aged Neoplasm Proteins Neoplasm Staging Polymerase Chain Reaction Prostatic Neoplasms Risk Factors Sequence Deletion Survival Rate Transcription Factors |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Molecular genetic analysis of prostate cancer has gained considerable attention in recent years. The hope is to find genetic markers that can help to determine which patients are likely to develop a progressive or lethal disease and would therefore benefit from early treatment. The BRCA2 gene on chromosome 13 has been associated with familial male and female breast cancer. A founder mutation in this gene has been detected in the Icelandic population. This is a 5-bp deletion that leads to an early termination and truncated protein. Clustering of prostate cancers in some of the Icelandic BRCA2 families implies that mutation carriers are at increased risk of developing cancer of the prostate. The aim of the study was to investigate this mutation in Icelandic prostate cancer patients related to BRCA2 positive breast cancer probands and to estimate the prevalence of this mutation in unselected prostate cancer patients. To examine the potential role of this mutation in prostate cancer we analyzed prostate cancer cases from 16 BRCA2 families and all available samples from individuals diagnosed with prostate cancer in Iceland over a period of 1 year. The risk ratio of prostate cancer was 4.6 (1.9-8.8) in first-degree relatives and 2.5 (1.2-4.6) in second-degree relatives of the 16 BRCA2 positive breast cancer probands. Of 26 prostate cancer cases found in these families 12 were analyzed, and 8 of these (66.7%) had the BRCA2 mutation. All of these patients developed an advanced disease, and all have died of prostate cancer (median survival 22.5 months). Among unselected cases 3.1% (2/65) had the mutation and developed an advanced disease as well. This specific mutation in the BRCA2 gene is found in a subset of Icelandic prostate cancer cases and appears to be a marker for poor prognosis. |
author2 |
Molecular and Cell Biology Research Laboratory, Icelandic Cancer Society, Reykjavik. |
format |
Article in Journal/Newspaper |
author |
Sigurdsson, S Thorlacius, S Tomasson, J Tryggvadottir, L Benediktsdottir, K Eyfjord, J E Jonsson, E |
author_facet |
Sigurdsson, S Thorlacius, S Tomasson, J Tryggvadottir, L Benediktsdottir, K Eyfjord, J E Jonsson, E |
author_sort |
Sigurdsson, S |
title |
BRCA2 mutation in Icelandic prostate cancer patients |
title_short |
BRCA2 mutation in Icelandic prostate cancer patients |
title_full |
BRCA2 mutation in Icelandic prostate cancer patients |
title_fullStr |
BRCA2 mutation in Icelandic prostate cancer patients |
title_full_unstemmed |
BRCA2 mutation in Icelandic prostate cancer patients |
title_sort |
brca2 mutation in icelandic prostate cancer patients |
publisher |
Springer International |
publishDate |
2010 |
url |
http://hdl.handle.net/2336/111220 https://doi.org/10.1007/s001090050162 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1007/s001090050162 J. Mol. Med. 1997, 75(10):758-61 0946-2716 9383000 doi:10.1007/s001090050162 http://hdl.handle.net/2336/111220 Journal of molecular medicine (Berlin, Germany) |
op_doi |
https://doi.org/10.1007/s001090050162 |
container_title |
Journal of Molecular Medicine |
container_volume |
75 |
container_issue |
10 |
container_start_page |
758 |
op_container_end_page |
761 |
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1766039807167823872 |