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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Umeå universitet, Onkologi
2019
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ftumeauniv:oai:DiVA.org:umu-155774 2023-10-09T21:54:33+02:00 The BRCA1 exon 13 duplication : clinical characteristics of 22 families in Northern Sweden Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice S. 2019 application/pdf http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-155774 https://doi.org/10.1007/s10689-018-0098-y eng eng Umeå universitet, Onkologi Familial Cancer, 1389-9600, 2019, 18:1, s. 37-42 orcid:0000-0002-4028-8796 orcid:0000-0003-2441-2395 orcid:0000-0002-5046-1820 http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-155774 doi:10.1007/s10689-018-0098-y PMID 30136106 ISI:000455137200005 Scopus 2-s2.0-85052654099 info:eu-repo/semantics/openAccess BRCA1 BRCA1 ins6kbEx13 Breast cancer Ovarian cancer Prostate cancer Colon cancer Cancer and Oncology Cancer och onkologi Article in journal info:eu-repo/semantics/article text 2019 ftumeauniv https://doi.org/10.1007/s10689-018-0098-y 2023-09-22T13:59:36Z 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. Article in Journal/Newspaper Northern Sweden Umeå University: Publications (DiVA) Familial Cancer 18 1 37 42 |
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Umeå University: Publications (DiVA) |
op_collection_id |
ftumeauniv |
language |
English |
topic |
BRCA1 BRCA1 ins6kbEx13 Breast cancer Ovarian cancer Prostate cancer Colon cancer Cancer and Oncology Cancer och onkologi |
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BRCA1 BRCA1 ins6kbEx13 Breast cancer Ovarian cancer Prostate cancer Colon cancer Cancer and Oncology Cancer och onkologi Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice S. The BRCA1 exon 13 duplication : clinical characteristics of 22 families in Northern Sweden |
topic_facet |
BRCA1 BRCA1 ins6kbEx13 Breast cancer Ovarian cancer Prostate cancer Colon cancer Cancer and Oncology Cancer och onkologi |
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 |
Article in Journal/Newspaper |
author |
Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice S. |
author_facet |
Edwinsdotter Ardnor, Christina Rosén, Anna Ljuslinder, Ingrid Melin, Beatrice S. |
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 |
Umeå universitet, Onkologi |
publishDate |
2019 |
url |
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-155774 https://doi.org/10.1007/s10689-018-0098-y |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
Familial Cancer, 1389-9600, 2019, 18:1, s. 37-42 orcid:0000-0002-4028-8796 orcid:0000-0003-2441-2395 orcid:0000-0002-5046-1820 http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-155774 doi:10.1007/s10689-018-0098-y PMID 30136106 ISI:000455137200005 Scopus 2-s2.0-85052654099 |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.1007/s10689-018-0098-y |
container_title |
Familial Cancer |
container_volume |
18 |
container_issue |
1 |
container_start_page |
37 |
op_container_end_page |
42 |
_version_ |
1779318148163436544 |