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Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa
Breast cancer susceptibility genes BRCA1 and BRCA2 are tumour suppressor genes the alleles of which have to be inactivated before tumour development occurs. Hereditary breast cancers linked to germ-line mutations of BRCA1 and BRCA2 genes almost invariably show allelic imbalance (AI) at the respectiv...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Nature Publishing Group
2001
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375151/ https://www.ncbi.nlm.nih.gov/pubmed/11710835 http://dx.doi.org/10.1054/bjoc.2001.2062 |
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author | Staff, S Isola, J J Johannsson, O Borg, Å Tanner, M M |
author_facet | Staff, S Isola, J J Johannsson, O Borg, Å Tanner, M M |
author_sort | Staff, S |
collection | PubMed |
description | Breast cancer susceptibility genes BRCA1 and BRCA2 are tumour suppressor genes the alleles of which have to be inactivated before tumour development occurs. Hereditary breast cancers linked to germ-line mutations of BRCA1 and BRCA2 genes almost invariably show allelic imbalance (AI) at the respective loci. BRCA1 and BRCA2 are believed to take part in a common pathway in maintenance of genomic integrity in cells. We carried out AI and fluorescence in situ hybridization (FISH) analyses of BRCA2 in breast tumours from germ-line BRCA1 mutation carriers and vice versa. For comparison, 14 sporadic breast tumours were also studied. 8 of the 11 (73%) informative BRCA1 mutation tumours showed AI at the BRCA2 locus. 53% of these tumours showed a copy number loss of the BRCA2 gene by FISH. 5 of the 6 (83%) informative BRCA2 mutation tumours showed AI at the BRCA1 locus. Half of the tumours (4/8) showed a physical deletion of the BRCA1 gene by FISH. Combined allelic loss of both BRCA1 and BRCA2 gene was seen in 12 of the 17 (71%) informative hereditary tumours, whereas copy number losses of both BRCA genes was seen in only 4/14 (29%) sporadic control tumours studied by FISH. In conclusion, the high prevalence of AI at BRCA1 in BRCA2 mutation tumours and vice versa suggests that somatic events occurring at the other breast cancer susceptibility gene locus may be selected in the cancer development. The mechanism resulting in AI at these loci seems more complex than a physical deletion. http://www.bjcancer.com © 2001 Cancer Research Campaign |
format | Text |
id | pubmed-2375151 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2001 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-23751512009-09-10 Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa Staff, S Isola, J J Johannsson, O Borg, Å Tanner, M M Br J Cancer Regular Article Breast cancer susceptibility genes BRCA1 and BRCA2 are tumour suppressor genes the alleles of which have to be inactivated before tumour development occurs. Hereditary breast cancers linked to germ-line mutations of BRCA1 and BRCA2 genes almost invariably show allelic imbalance (AI) at the respective loci. BRCA1 and BRCA2 are believed to take part in a common pathway in maintenance of genomic integrity in cells. We carried out AI and fluorescence in situ hybridization (FISH) analyses of BRCA2 in breast tumours from germ-line BRCA1 mutation carriers and vice versa. For comparison, 14 sporadic breast tumours were also studied. 8 of the 11 (73%) informative BRCA1 mutation tumours showed AI at the BRCA2 locus. 53% of these tumours showed a copy number loss of the BRCA2 gene by FISH. 5 of the 6 (83%) informative BRCA2 mutation tumours showed AI at the BRCA1 locus. Half of the tumours (4/8) showed a physical deletion of the BRCA1 gene by FISH. Combined allelic loss of both BRCA1 and BRCA2 gene was seen in 12 of the 17 (71%) informative hereditary tumours, whereas copy number losses of both BRCA genes was seen in only 4/14 (29%) sporadic control tumours studied by FISH. In conclusion, the high prevalence of AI at BRCA1 in BRCA2 mutation tumours and vice versa suggests that somatic events occurring at the other breast cancer susceptibility gene locus may be selected in the cancer development. The mechanism resulting in AI at these loci seems more complex than a physical deletion. http://www.bjcancer.com © 2001 Cancer Research Campaign Nature Publishing Group 2001-10 /pmc/articles/PMC2375151/ /pubmed/11710835 http://dx.doi.org/10.1054/bjoc.2001.2062 Text en Copyright © 2001 Cancer Research Campaign https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Regular Article Staff, S Isola, J J Johannsson, O Borg, Å Tanner, M M Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa |
title | Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice
versa |
title_full | Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice
versa |
title_fullStr | Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice
versa |
title_full_unstemmed | Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice
versa |
title_short | Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice
versa |
title_sort | frequent somatic loss of brca1 in breast tumours from brca2 germ-line mutation carriers and vice
versa |
topic | Regular Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375151/ https://www.ncbi.nlm.nih.gov/pubmed/11710835 http://dx.doi.org/10.1054/bjoc.2001.2062 |
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