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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cancer Intelligence 2021
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.
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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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