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dc.contributor.authorSigurdsson, S
dc.contributor.authorThorlacius, S
dc.contributor.authorTomasson, J
dc.contributor.authorTryggvadottir, L
dc.contributor.authorBenediktsdottir, K
dc.contributor.authorEyfjord, J E
dc.contributor.authorJonsson, E
dc.date.accessioned2010-09-16T10:50:27Z
dc.date.available2010-09-16T10:50:27Z
dc.date.issued1997-10-01
dc.date.submitted2010-09-16
dc.identifier.citationJ. Mol. Med. 1997, 75(10):758-61en
dc.identifier.issn0946-2716
dc.identifier.pmid9383000
dc.identifier.doi10.1007/s001090050162
dc.identifier.urihttp://hdl.handle.net/2336/111220
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractMolecular 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.
dc.language.isoenen
dc.publisherSpringer Internationalen
dc.relation.urlhttp://dx.doi.org/10.1007/s001090050162en
dc.subject.meshAgeden
dc.subject.meshBRCA2 Proteinen
dc.subject.meshBreast Neoplasmsen
dc.subject.meshBreast Neoplasms, Maleen
dc.subject.meshDNA Mutational Analysisen
dc.subject.meshDNA Primersen
dc.subject.meshExonsen
dc.subject.meshFemaleen
dc.subject.meshGenetic Markersen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshNeoplasm Proteinsen
dc.subject.meshNeoplasm Stagingen
dc.subject.meshPolymerase Chain Reactionen
dc.subject.meshProstatic Neoplasmsen
dc.subject.meshRisk Factorsen
dc.subject.meshSequence Deletionen
dc.subject.meshSurvival Rateen
dc.subject.meshTranscription Factorsen
dc.titleBRCA2 mutation in Icelandic prostate cancer patientsen
dc.typeArticleen
dc.contributor.departmentMolecular and Cell Biology Research Laboratory, Icelandic Cancer Society, Reykjavik.en
dc.identifier.journalJournal of molecular medicine (Berlin, Germany)en
html.description.abstractMolecular 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.


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