Unique features of germline variation in five egyptian familial breast cancer families revealed by exome sequencing

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

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article number0167581
JournalPloS one
Volume12
Issue number1
DOIs
StatePublished - Jan 2017

Fingerprint

Exome
Genetic Predisposition to Disease
breast neoplasms
germ cells
Genes
Population
Screening
Breast Neoplasms
Inborn Genetic Diseases
Egypt
Neoplasm Genes
Familial Breast Cancer
Diagnostic Errors
genetic disorders
genes
screening
genetic variation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

Cite this

Kim, Y. C., Soliman, A. S., Cui, J., Ramadan, M., Hablas, A., Abouelhoda, M., ... Wang, S. M. (2017). Unique features of germline variation in five egyptian familial breast cancer families revealed by exome sequencing. PloS one, 12(1), [0167581]. https://doi.org/10.1371/journal.pone.0167581

Unique features of germline variation in five egyptian familial breast cancer families revealed by exome sequencing. / Kim, Yeong C.; Soliman, Amr S.; Cui, Jian; Ramadan, Mohamed; Hablas, Ahmed; Abouelhoda, Mohamed; Hussien, Nehal; Ahmed, Ola; Zekri, Abdel Rahman Nabawy; Seifeldin, Ibrahim A.; Wang, San Ming.

In: PloS one, Vol. 12, No. 1, 0167581, 01.2017.

Research output: Contribution to journalArticle

Kim, YC, Soliman, AS, Cui, J, Ramadan, M, Hablas, A, Abouelhoda, M, Hussien, N, Ahmed, O, Zekri, ARN, Seifeldin, IA & Wang, SM 2017, 'Unique features of germline variation in five egyptian familial breast cancer families revealed by exome sequencing', PloS one, vol. 12, no. 1, 0167581. https://doi.org/10.1371/journal.pone.0167581
Kim, Yeong C. ; Soliman, Amr S. ; Cui, Jian ; Ramadan, Mohamed ; Hablas, Ahmed ; Abouelhoda, Mohamed ; Hussien, Nehal ; Ahmed, Ola ; Zekri, Abdel Rahman Nabawy ; Seifeldin, Ibrahim A. ; Wang, San Ming. / Unique features of germline variation in five egyptian familial breast cancer families revealed by exome sequencing. In: PloS one. 2017 ; Vol. 12, No. 1.
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