Evidence against PALB2 involvement in Icelandic breast cancer susceptibility
Abstract Several mutations in the PALB2 gene (partner and localizer of BRCA2 ) have been associated with an increased risk of breast cancer, including a founder mutation, 1592delT, reported in Finnish breast cancer families. Although most often the risk is moderate, it doesn't exclude families...
Published in: | Journal of Negative Results in BioMedicine |
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Springer Science and Business Media LLC
2008
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crspringernat:10.1186/1477-5751-7-5 2023-05-15T16:46:33+02:00 Evidence against PALB2 involvement in Icelandic breast cancer susceptibility Gunnarsson, Haukur Arason, Adalgeir Gillanders, Elizabeth M Agnarsson, Bjarni A Johannesdottir, Gudrun Johannsson, Oskar Th Barkardottir, Rosa B 2008 http://dx.doi.org/10.1186/1477-5751-7-5 http://link.springer.com/content/pdf/10.1186/1477-5751-7-5.pdf http://link.springer.com/article/10.1186/1477-5751-7-5/fulltext.html http://link.springer.com/content/pdf/10.1186/1477-5751-7-5 https://link.springer.com/content/pdf/10.1186/1477-5751-7-5.pdf en eng Springer Science and Business Media LLC http://www.springer.com/tdm Journal of Negative Results in BioMedicine volume 7, issue 1 ISSN 1477-5751 General Pharmacology, Toxicology and Pharmaceutics General Biochemistry, Genetics and Molecular Biology General Medicine journal-article 2008 crspringernat https://doi.org/10.1186/1477-5751-7-5 2022-01-04T16:03:53Z Abstract Several mutations in the PALB2 gene (partner and localizer of BRCA2 ) have been associated with an increased risk of breast cancer, including a founder mutation, 1592delT, reported in Finnish breast cancer families. Although most often the risk is moderate, it doesn't exclude families with high-risk mutations to exist and such observations have been reported. To see if high-risk PALB2 -mutations may be present in the geographically confined population of Iceland, linkage analysis was done on 111 individuals, thereof 61 breast cancer cases, from 9 high-risk non- BRCA1 / BRCA2 breast cancer families, targeting the PALB2 region. Also, screening for the 1592delT founder mutation in the 9 high-risk families and in 638 unselected breast cancer cases was performed. The results indicate no linkage in any of the high-risk families and screening for the 1592delT mutation was negative in all samples. PALB2 appears not to be a significant factor in high-risk breast cancer families in Iceland and the 1592delT mutation is not seen to be associated with breast cancer in Iceland. Article in Journal/Newspaper Iceland Springer Nature (via Crossref) Journal of Negative Results in BioMedicine 7 1 |
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Springer Nature (via Crossref) |
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English |
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General Pharmacology, Toxicology and Pharmaceutics General Biochemistry, Genetics and Molecular Biology General Medicine |
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General Pharmacology, Toxicology and Pharmaceutics General Biochemistry, Genetics and Molecular Biology General Medicine Gunnarsson, Haukur Arason, Adalgeir Gillanders, Elizabeth M Agnarsson, Bjarni A Johannesdottir, Gudrun Johannsson, Oskar Th Barkardottir, Rosa B Evidence against PALB2 involvement in Icelandic breast cancer susceptibility |
topic_facet |
General Pharmacology, Toxicology and Pharmaceutics General Biochemistry, Genetics and Molecular Biology General Medicine |
description |
Abstract Several mutations in the PALB2 gene (partner and localizer of BRCA2 ) have been associated with an increased risk of breast cancer, including a founder mutation, 1592delT, reported in Finnish breast cancer families. Although most often the risk is moderate, it doesn't exclude families with high-risk mutations to exist and such observations have been reported. To see if high-risk PALB2 -mutations may be present in the geographically confined population of Iceland, linkage analysis was done on 111 individuals, thereof 61 breast cancer cases, from 9 high-risk non- BRCA1 / BRCA2 breast cancer families, targeting the PALB2 region. Also, screening for the 1592delT founder mutation in the 9 high-risk families and in 638 unselected breast cancer cases was performed. The results indicate no linkage in any of the high-risk families and screening for the 1592delT mutation was negative in all samples. PALB2 appears not to be a significant factor in high-risk breast cancer families in Iceland and the 1592delT mutation is not seen to be associated with breast cancer in Iceland. |
format |
Article in Journal/Newspaper |
author |
Gunnarsson, Haukur Arason, Adalgeir Gillanders, Elizabeth M Agnarsson, Bjarni A Johannesdottir, Gudrun Johannsson, Oskar Th Barkardottir, Rosa B |
author_facet |
Gunnarsson, Haukur Arason, Adalgeir Gillanders, Elizabeth M Agnarsson, Bjarni A Johannesdottir, Gudrun Johannsson, Oskar Th Barkardottir, Rosa B |
author_sort |
Gunnarsson, Haukur |
title |
Evidence against PALB2 involvement in Icelandic breast cancer susceptibility |
title_short |
Evidence against PALB2 involvement in Icelandic breast cancer susceptibility |
title_full |
Evidence against PALB2 involvement in Icelandic breast cancer susceptibility |
title_fullStr |
Evidence against PALB2 involvement in Icelandic breast cancer susceptibility |
title_full_unstemmed |
Evidence against PALB2 involvement in Icelandic breast cancer susceptibility |
title_sort |
evidence against palb2 involvement in icelandic breast cancer susceptibility |
publisher |
Springer Science and Business Media LLC |
publishDate |
2008 |
url |
http://dx.doi.org/10.1186/1477-5751-7-5 http://link.springer.com/content/pdf/10.1186/1477-5751-7-5.pdf http://link.springer.com/article/10.1186/1477-5751-7-5/fulltext.html http://link.springer.com/content/pdf/10.1186/1477-5751-7-5 https://link.springer.com/content/pdf/10.1186/1477-5751-7-5.pdf |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Journal of Negative Results in BioMedicine volume 7, issue 1 ISSN 1477-5751 |
op_rights |
http://www.springer.com/tdm |
op_doi |
https://doi.org/10.1186/1477-5751-7-5 |
container_title |
Journal of Negative Results in BioMedicine |
container_volume |
7 |
container_issue |
1 |
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1766036643295264768 |