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Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

The study of hereditary cancer, which accounts for ~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mut...

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Autores principales: AlHarthi, Fawz S., Qari, Alya, Edress, Alaa, Abedalthagafi, Malak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997177/
https://www.ncbi.nlm.nih.gov/pubmed/32025336
http://dx.doi.org/10.1038/s41525-019-0110-y
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author AlHarthi, Fawz S.
Qari, Alya
Edress, Alaa
Abedalthagafi, Malak
author_facet AlHarthi, Fawz S.
Qari, Alya
Edress, Alaa
Abedalthagafi, Malak
author_sort AlHarthi, Fawz S.
collection PubMed
description The study of hereditary cancer, which accounts for ~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mutations vary across populations, and most studies that have located hereditary cancer genes have been conducted on European or Asian populations. There is an urgent need to trace hereditary cancer genes across the Arab world. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world. There are also cultural and educational idiosyncrasies that differentiate Arab populations from other more thoroughly studied groups with respect to cancer awareness and treatment. Therefore, a review of the literature on hereditary cancers in this understudied population was undertaken. We report that BRCA mutations are not as prevalent among Arab breast cancer patients as they are among other ethnic groups, and therefore, other genes may play a more important role. A wide variety of germline inherited mutations that are associated with cancer are discussed, with particular attention to breast, ovarian, colorectal, prostate, and brain cancers. Finally, we describe the state of the profession of familial cancer genetic counselling in the Arab world, and the clinics and societies dedicated to its advances. We describe the complexities of genetic counselling that are specific to the Arab world. Understanding hereditary cancer is heavily dependent on understanding population-specific variations in cancer-associated gene frequencies.
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spelling pubmed-69971772020-02-05 Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population AlHarthi, Fawz S. Qari, Alya Edress, Alaa Abedalthagafi, Malak NPJ Genom Med Review Article The study of hereditary cancer, which accounts for ~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mutations vary across populations, and most studies that have located hereditary cancer genes have been conducted on European or Asian populations. There is an urgent need to trace hereditary cancer genes across the Arab world. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world. There are also cultural and educational idiosyncrasies that differentiate Arab populations from other more thoroughly studied groups with respect to cancer awareness and treatment. Therefore, a review of the literature on hereditary cancers in this understudied population was undertaken. We report that BRCA mutations are not as prevalent among Arab breast cancer patients as they are among other ethnic groups, and therefore, other genes may play a more important role. A wide variety of germline inherited mutations that are associated with cancer are discussed, with particular attention to breast, ovarian, colorectal, prostate, and brain cancers. Finally, we describe the state of the profession of familial cancer genetic counselling in the Arab world, and the clinics and societies dedicated to its advances. We describe the complexities of genetic counselling that are specific to the Arab world. Understanding hereditary cancer is heavily dependent on understanding population-specific variations in cancer-associated gene frequencies. Nature Publishing Group UK 2020-02-03 /pmc/articles/PMC6997177/ /pubmed/32025336 http://dx.doi.org/10.1038/s41525-019-0110-y Text en © The Author(s) 2020 Open Access 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 http://creativecommons.org/licenses/by/4.0/.
spellingShingle Review Article
AlHarthi, Fawz S.
Qari, Alya
Edress, Alaa
Abedalthagafi, Malak
Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population
title Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population
title_full Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population
title_fullStr Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population
title_full_unstemmed Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population
title_short Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population
title_sort familial/inherited cancer syndrome: a focus on the highly consanguineous arab population
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997177/
https://www.ncbi.nlm.nih.gov/pubmed/32025336
http://dx.doi.org/10.1038/s41525-019-0110-y
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