The Experts below are selected from a list of 324 Experts worldwide ranked by ideXlab platform
Kenneth H. Cowan - One of the best experts on this subject based on the ideXlab platform.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer.
BMC cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer
BMC Cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family. Methods In this study, we tested genetic Predispositions by analyzing the family-specific variants in familial breast cancer. Using exome sequencing, we analyzed three families and 22 probands with BRCAx (BRCA- negative) familial breast cancer. Results We observed the presence of family-specific, novel, deleterious germline variants in each family. Of the germline variants identified, many were shared between the disease-affected family members of the same family but not found in different families, which have their own specific variants. Certain variants are putative deleterious genetic Predispositions damaging functionally important genes involved in DNA replication and damaging repair, tumor suppression, signal transduction, and phosphorylation. Conclusions Our study demonstrates that the Predispositions for many BRCAx familial breast cancer families can lie in each disease family. The application of a family-focused approach has the potential to detect many new Predispositions.
Yeong C. Kim - One of the best experts on this subject based on the ideXlab platform.
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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
PloS one, 2017Co-Authors: Yeong C. Kim, Amr S. Soliman, Jian Cui, Mohamed Z. Ramadan, Ahmed Hablas, Mohamed Abouelhoda, Nehal Hussien, Ola S Ahmed, Abdel-rahman N. Zekri, Ibrahim A. SeifeldinAbstract: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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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer.
BMC cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer
BMC Cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family. Methods In this study, we tested genetic Predispositions by analyzing the family-specific variants in familial breast cancer. Using exome sequencing, we analyzed three families and 22 probands with BRCAx (BRCA- negative) familial breast cancer. Results We observed the presence of family-specific, novel, deleterious germline variants in each family. Of the germline variants identified, many were shared between the disease-affected family members of the same family but not found in different families, which have their own specific variants. Certain variants are putative deleterious genetic Predispositions damaging functionally important genes involved in DNA replication and damaging repair, tumor suppression, signal transduction, and phosphorylation. Conclusions Our study demonstrates that the Predispositions for many BRCAx familial breast cancer families can lie in each disease family. The application of a family-focused approach has the potential to detect many new Predispositions.
Hongxiu Wen - One of the best experts on this subject based on the ideXlab platform.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer.
BMC cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer
BMC Cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family. Methods In this study, we tested genetic Predispositions by analyzing the family-specific variants in familial breast cancer. Using exome sequencing, we analyzed three families and 22 probands with BRCAx (BRCA- negative) familial breast cancer. Results We observed the presence of family-specific, novel, deleterious germline variants in each family. Of the germline variants identified, many were shared between the disease-affected family members of the same family but not found in different families, which have their own specific variants. Certain variants are putative deleterious genetic Predispositions damaging functionally important genes involved in DNA replication and damaging repair, tumor suppression, signal transduction, and phosphorylation. Conclusions Our study demonstrates that the Predispositions for many BRCAx familial breast cancer families can lie in each disease family. The application of a family-focused approach has the potential to detect many new Predispositions.
Simon Sherman - One of the best experts on this subject based on the ideXlab platform.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer.
BMC cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer
BMC Cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family. Methods In this study, we tested genetic Predispositions by analyzing the family-specific variants in familial breast cancer. Using exome sequencing, we analyzed three families and 22 probands with BRCAx (BRCA- negative) familial breast cancer. Results We observed the presence of family-specific, novel, deleterious germline variants in each family. Of the germline variants identified, many were shared between the disease-affected family members of the same family but not found in different families, which have their own specific variants. Certain variants are putative deleterious genetic Predispositions damaging functionally important genes involved in DNA replication and damaging repair, tumor suppression, signal transduction, and phosphorylation. Conclusions Our study demonstrates that the Predispositions for many BRCAx familial breast cancer families can lie in each disease family. The application of a family-focused approach has the potential to detect many new Predispositions.
Dina Becirovic - One of the best experts on this subject based on the ideXlab platform.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer.
BMC cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family.
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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic Predispositions for BRCAx familial breast cancer
BMC Cancer, 2014Co-Authors: Hongxiu Wen, Bradley Downs, Yeong C. Kim, Carrie Snyder, Fengxia Xiao, Elizabeth A. Fleissner, Dina Becirovic, Jiangtao Luo, Simon Sherman, Kenneth H. CowanAbstract:Background Genetic Predisposition is the primary risk factor for familial breast cancer. For the majority of familial breast cancer, however, the genetic Predispositions remain unknown. All newly identified Predispositions occur rarely in disease population, and the unknown genetic Predispositions are estimated to reach up to total thousands. Family unit is the basic structure of genetics. Because it is an autosomal dominant disease, individuals with a history of familial breast cancer must carry the same genetic Predisposition across generations. Therefore, focusing on the cases in lineages of familial breast cancer, rather than pooled cases in disease population, is expected to provide high probability to identify the genetic Predisposition for each family. Methods In this study, we tested genetic Predispositions by analyzing the family-specific variants in familial breast cancer. Using exome sequencing, we analyzed three families and 22 probands with BRCAx (BRCA- negative) familial breast cancer. Results We observed the presence of family-specific, novel, deleterious germline variants in each family. Of the germline variants identified, many were shared between the disease-affected family members of the same family but not found in different families, which have their own specific variants. Certain variants are putative deleterious genetic Predispositions damaging functionally important genes involved in DNA replication and damaging repair, tumor suppression, signal transduction, and phosphorylation. Conclusions Our study demonstrates that the Predispositions for many BRCAx familial breast cancer families can lie in each disease family. The application of a family-focused approach has the potential to detect many new Predispositions.
