The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden
The clinical management of BRCA1/2 mutation carriers requires accurate cancer risk estimates. Cancer risks vary according to type and location of the mutation and since there is limited information about mutation-specific cancer risks, genotype-phenotype correlation studies are needed. This is a rep...
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ftpubmed:oai:pubmedcentral.nih.gov:6323134 2023-05-15T17:44:38+02:00 The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice 2018-08-22 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323134/ http://www.ncbi.nlm.nih.gov/pubmed/30136106 https://doi.org/10.1007/s10689-018-0098-y en eng Springer Netherlands http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323134/ http://www.ncbi.nlm.nih.gov/pubmed/30136106 http://dx.doi.org/10.1007/s10689-018-0098-y © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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. CC-BY Short Communication Text 2018 ftpubmed https://doi.org/10.1007/s10689-018-0098-y 2019-01-27T01:26:09Z The clinical management of BRCA1/2 mutation carriers requires accurate cancer risk estimates. Cancer risks vary according to type and location of the mutation and since there is limited information about mutation-specific cancer risks, genotype-phenotype correlation studies are needed. This is a report of 22 families with the same mutation, BRCA1 duplication exon 13, a mutation that is found world-wide, with the objective to describe the cancer history found in these families. We studied 69 confirmed carriers, 53 women and 16 men, and additionally 29 women who were clinically expected carriers. Among the confirmed carriers, 27 women (51%) were diagnosed with breast cancer, 10 (19%) with ovarian cancer, 5 (9%) with breast and ovarian cancer and 17 (32%) without cancer. Nine women (17%) with breast cancer were 35 years or younger at diagnose. Also, two cases of early onset colon cancer were found, and 37,5% of the male carriers were diagnosed with prostate cancer. These data may have implications for risk assessment and cancer prevention decision making for carriers of the BRCA1 duplication exon 13 mutation. Text Northern Sweden PubMed Central (PMC) Familial Cancer 18 1 37 42 |
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Short Communication Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden |
topic_facet |
Short Communication |
description |
The clinical management of BRCA1/2 mutation carriers requires accurate cancer risk estimates. Cancer risks vary according to type and location of the mutation and since there is limited information about mutation-specific cancer risks, genotype-phenotype correlation studies are needed. This is a report of 22 families with the same mutation, BRCA1 duplication exon 13, a mutation that is found world-wide, with the objective to describe the cancer history found in these families. We studied 69 confirmed carriers, 53 women and 16 men, and additionally 29 women who were clinically expected carriers. Among the confirmed carriers, 27 women (51%) were diagnosed with breast cancer, 10 (19%) with ovarian cancer, 5 (9%) with breast and ovarian cancer and 17 (32%) without cancer. Nine women (17%) with breast cancer were 35 years or younger at diagnose. Also, two cases of early onset colon cancer were found, and 37,5% of the male carriers were diagnosed with prostate cancer. These data may have implications for risk assessment and cancer prevention decision making for carriers of the BRCA1 duplication exon 13 mutation. |
format |
Text |
author |
Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice |
author_facet |
Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice |
author_sort |
Edwinsdotter Ardnor, Christina |
title |
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden |
title_short |
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden |
title_full |
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden |
title_fullStr |
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden |
title_full_unstemmed |
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden |
title_sort |
brca1 exon 13 duplication: clinical characteristics of 22 families in northern sweden |
publisher |
Springer Netherlands |
publishDate |
2018 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323134/ http://www.ncbi.nlm.nih.gov/pubmed/30136106 https://doi.org/10.1007/s10689-018-0098-y |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323134/ http://www.ncbi.nlm.nih.gov/pubmed/30136106 http://dx.doi.org/10.1007/s10689-018-0098-y |
op_rights |
© The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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. |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.1007/s10689-018-0098-y |
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Familial Cancer |
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18 |
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1 |
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37 |
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42 |
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1766146895290302464 |