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BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review
OBJECTIVE: Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1/BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753086/ https://www.ncbi.nlm.nih.gov/pubmed/35000471 http://dx.doi.org/10.1177/03000605211070757 |
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author | Kharel, Sanjeev Shrestha, Suraj Yadav, Siddhartha Shakya, Prafulla Baidya, Sujita Hirachan, Suzita |
author_facet | Kharel, Sanjeev Shrestha, Suraj Yadav, Siddhartha Shakya, Prafulla Baidya, Sujita Hirachan, Suzita |
author_sort | Kharel, Sanjeev |
collection | PubMed |
description | OBJECTIVE: Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1/BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore these mutations among South Asian countries. METHODS: A systematic literature search was performed for the BRCA1 and BRCA2 gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specific inclusion and exclusion criteria. RESULTS: The 185delAG (c.68_69del) mutation in exon 2 of BRCA1 was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements, and polymorphisms were also described in some studies. CONCLUSIONS: The South Asian population has a wide variety of genetic mutations of BRCA1 and BRCA2 that differ according to countries and ethnicities. A stronger knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing. |
format | Online Article Text |
id | pubmed-8753086 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-87530862022-01-13 BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review Kharel, Sanjeev Shrestha, Suraj Yadav, Siddhartha Shakya, Prafulla Baidya, Sujita Hirachan, Suzita J Int Med Res Systematic Review OBJECTIVE: Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1/BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore these mutations among South Asian countries. METHODS: A systematic literature search was performed for the BRCA1 and BRCA2 gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specific inclusion and exclusion criteria. RESULTS: The 185delAG (c.68_69del) mutation in exon 2 of BRCA1 was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements, and polymorphisms were also described in some studies. CONCLUSIONS: The South Asian population has a wide variety of genetic mutations of BRCA1 and BRCA2 that differ according to countries and ethnicities. A stronger knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing. SAGE Publications 2022-01-10 /pmc/articles/PMC8753086/ /pubmed/35000471 http://dx.doi.org/10.1177/03000605211070757 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Systematic Review Kharel, Sanjeev Shrestha, Suraj Yadav, Siddhartha Shakya, Prafulla Baidya, Sujita Hirachan, Suzita BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review |
title | BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review |
title_full | BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review |
title_fullStr | BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review |
title_full_unstemmed | BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review |
title_short | BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review |
title_sort | brca1/brca2 mutation spectrum analysis in south asia: a systematic review |
topic | Systematic Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753086/ https://www.ncbi.nlm.nih.gov/pubmed/35000471 http://dx.doi.org/10.1177/03000605211070757 |
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