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Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study
Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families wi...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cancer Intelligence
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426025/ https://www.ncbi.nlm.nih.gov/pubmed/34567246 http://dx.doi.org/10.3332/ecancer.2021.1261 |
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author | Miguel, Isália Rodrigues, Fátima Fragoso, Sofia Freixo, João Clara, Ana Luís, Ana Bento, Sandra Fernandes, Mariana Bacelar, Filipe Câmara, Sara Parreira, Joana Duarte, Teresa Rodrigues, Paula Santos, Sidónia Vaz, Fátima |
author_facet | Miguel, Isália Rodrigues, Fátima Fragoso, Sofia Freixo, João Clara, Ana Luís, Ana Bento, Sandra Fernandes, Mariana Bacelar, Filipe Câmara, Sara Parreira, Joana Duarte, Teresa Rodrigues, Paula Santos, Sidónia Vaz, Fátima |
author_sort | Miguel, Isália |
collection | PubMed |
description | Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme. Of a total of 3,566 index patients tested between January 2000 and June 2018, 68 had Madeira ancestry and 22 were diagnosed with a pathogenic germline variant (PV). As in the whole group, BRCA2 PV were more frequent in Madeira patients (68.4%: c.9382C>T (26.3%), c.658_659del (21%), c.156_157insAlu (10.5%), c.793+1G>A (5.3%) and c.298A>T (5.3%). However, the most frequently diagnosed PV in Madeira patients was the BRCA1 c.3331_3334del (31.6%). BRCA1/2 detection rates were 27.9% and 10.5% for Madeira and the whole group, respectively. This study is the first characterisation of HBOC patients with Madeira ancestry. A distinct pattern of BRCA1/2 variants was observed, and the geographic clustering of BRCA1 c.3331_3334del variant may support the possibility of a founder mutation previously described in Northern Portugal. The high detection rate observed reinforces the need to reduce gaps in access to genetic testing in Madeira and other remote areas. According to current guidelines, timely identification of HBOC patients can contribute to their ongoing care and treatment. |
format | Online Article Text |
id | pubmed-8426025 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cancer Intelligence |
record_format | MEDLINE/PubMed |
spelling | pubmed-84260252021-09-24 Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study Miguel, Isália Rodrigues, Fátima Fragoso, Sofia Freixo, João Clara, Ana Luís, Ana Bento, Sandra Fernandes, Mariana Bacelar, Filipe Câmara, Sara Parreira, Joana Duarte, Teresa Rodrigues, Paula Santos, Sidónia Vaz, Fátima Ecancermedicalscience Short Communication Access to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme. Of a total of 3,566 index patients tested between January 2000 and June 2018, 68 had Madeira ancestry and 22 were diagnosed with a pathogenic germline variant (PV). As in the whole group, BRCA2 PV were more frequent in Madeira patients (68.4%: c.9382C>T (26.3%), c.658_659del (21%), c.156_157insAlu (10.5%), c.793+1G>A (5.3%) and c.298A>T (5.3%). However, the most frequently diagnosed PV in Madeira patients was the BRCA1 c.3331_3334del (31.6%). BRCA1/2 detection rates were 27.9% and 10.5% for Madeira and the whole group, respectively. This study is the first characterisation of HBOC patients with Madeira ancestry. A distinct pattern of BRCA1/2 variants was observed, and the geographic clustering of BRCA1 c.3331_3334del variant may support the possibility of a founder mutation previously described in Northern Portugal. The high detection rate observed reinforces the need to reduce gaps in access to genetic testing in Madeira and other remote areas. According to current guidelines, timely identification of HBOC patients can contribute to their ongoing care and treatment. Cancer Intelligence 2021-07-05 /pmc/articles/PMC8426025/ /pubmed/34567246 http://dx.doi.org/10.3332/ecancer.2021.1261 Text en © the authors; licensee ecancermedicalscience. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Communication Miguel, Isália Rodrigues, Fátima Fragoso, Sofia Freixo, João Clara, Ana Luís, Ana Bento, Sandra Fernandes, Mariana Bacelar, Filipe Câmara, Sara Parreira, Joana Duarte, Teresa Rodrigues, Paula Santos, Sidónia Vaz, Fátima Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study |
title | Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study |
title_full | Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study |
title_fullStr | Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study |
title_full_unstemmed | Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study |
title_short | Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study |
title_sort | hereditary breast cancer and ancestry in the madeira archipelago: an exploratory study |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426025/ https://www.ncbi.nlm.nih.gov/pubmed/34567246 http://dx.doi.org/10.3332/ecancer.2021.1261 |
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