Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using th...

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Main Authors: Yeong C Kim, Amr S Soliman, Jian Cui, Mohamed Ramadan, Ahmed Hablas, Mohamed Abouelhoda, Nehal Hussien, Ola Ahmed, Abdel-Rahman Nabawy Zekri, Ibrahim A Seifeldin, San Ming Wang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5226826?pdf=render
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author Yeong C Kim
Amr S Soliman
Jian Cui
Mohamed Ramadan
Ahmed Hablas
Mohamed Abouelhoda
Nehal Hussien
Ola Ahmed
Abdel-Rahman Nabawy Zekri
Ibrahim A Seifeldin
San Ming Wang
author_facet Yeong C Kim
Amr S Soliman
Jian Cui
Mohamed Ramadan
Ahmed Hablas
Mohamed Abouelhoda
Nehal Hussien
Ola Ahmed
Abdel-Rahman Nabawy Zekri
Ibrahim A Seifeldin
San Ming Wang
author_sort Yeong C Kim
collection DOAJ
description Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect genetic predisposition from non-Western populations. The Egyptian population has high genetic variations in reflecting its divergent ethnic origins, and incident rate of familial breast cancer in Egypt is also higher than the rate in many other populations. Using whole exome sequencing, we investigated genetic predisposition in five Egyptian familial breast cancer families. No pathogenic variants in BRCA1, BRCA2 and other classical breast cancer-predisposition genes were present in these five families. Comparison of the genetic variants with those in Caucasian familial breast cancer showed that variants in the Egyptian families were more variable and heterogeneous than the variants in Caucasian families. Multiple damaging variants in genes of different functional categories were identified either in a single family or shared between families. Our study demonstrates that genetic predisposition in Egyptian breast cancer families may differ from those in other disease populations, and supports a comprehensive screening of local disease families to determine the genetic predisposition in Egyptian familial breast cancer.
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spelling doaj.art-dbfb456c2cb14b609224648fcc70d0fc2022-12-22T00:10:07ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-01121e016758110.1371/journal.pone.0167581Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.Yeong C KimAmr S SolimanJian CuiMohamed RamadanAhmed HablasMohamed AbouelhodaNehal HussienOla AhmedAbdel-Rahman Nabawy ZekriIbrahim A SeifeldinSan Ming WangGenetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect genetic predisposition from non-Western populations. The Egyptian population has high genetic variations in reflecting its divergent ethnic origins, and incident rate of familial breast cancer in Egypt is also higher than the rate in many other populations. Using whole exome sequencing, we investigated genetic predisposition in five Egyptian familial breast cancer families. No pathogenic variants in BRCA1, BRCA2 and other classical breast cancer-predisposition genes were present in these five families. Comparison of the genetic variants with those in Caucasian familial breast cancer showed that variants in the Egyptian families were more variable and heterogeneous than the variants in Caucasian families. Multiple damaging variants in genes of different functional categories were identified either in a single family or shared between families. Our study demonstrates that genetic predisposition in Egyptian breast cancer families may differ from those in other disease populations, and supports a comprehensive screening of local disease families to determine the genetic predisposition in Egyptian familial breast cancer.http://europepmc.org/articles/PMC5226826?pdf=render
spellingShingle Yeong C Kim
Amr S Soliman
Jian Cui
Mohamed Ramadan
Ahmed Hablas
Mohamed Abouelhoda
Nehal Hussien
Ola Ahmed
Abdel-Rahman Nabawy Zekri
Ibrahim A Seifeldin
San Ming Wang
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
PLoS ONE
title Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
title_full Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
title_fullStr Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
title_full_unstemmed Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
title_short Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
title_sort unique features of germline variation in five egyptian familial breast cancer families revealed by exome sequencing
url http://europepmc.org/articles/PMC5226826?pdf=render
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