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Glentis S, Dimopoulos AC, Rouskas K, et al. Exome Sequencing in . Front Genet. 2019;10:1005doi: 10.3389/fgene.2019.01005.
Glentis, S., Dimopoulos, A. C., Rouskas, K., Ntritsos, G., Evangelou, E., Narod, S. A., Mes-Masson, A. M., Foulkes, W. D., Rivera, B., Tonin, P. N., Ragoussis, J., & Dimas, A. S. (2019). Exome Sequencing in . Frontiers in genetics, 101005. https://doi.org/10.3389/fgene.2019.01005
Glentis, Stavros, et al. "Exome Sequencing in ." Frontiers in genetics vol. 10 (2019): 1005. doi: https://doi.org/10.3389/fgene.2019.01005
Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS. Exome Sequencing in . Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019. PMID: 31681433; PMCID: PMC6813924.
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Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019.

Exome Sequencing in .

Frontiers in genetics

Stavros Glentis, Alexandros C Dimopoulos, Konstantinos Rouskas, George Ntritsos, Evangelos Evangelou, Steven A Narod, Anne-Marie Mes-Masson, William D Foulkes, Barbara Rivera, Patricia N Tonin, Jiannis Ragoussis, Antigone S Dimas

Affiliations

  1. Division of Molecular Biology and Genetics, Biomedical Sciences Research Center Al. Fleming, Vari, Greece.
  2. Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.
  3. Department of Epidemiology and Biostatistics, Imperial College London, London, United Kingdom.
  4. Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
  5. Women's College Research Institute, Women's College Hospital, Toronto, ON, Canada.
  6. Centre de recherche du Centre hospitalier de l'Université de Montréal and Institut du cancer de Montréal, Montreal, QC, Canada.
  7. Department of Oncology, McGill University, Montreal, QC, Canada.
  8. Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC, Canada.
  9. Department of Medical Genetics, The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  10. Department of Medicine, McGill University, Montreal, QC, Canada.
  11. Department of Human Genetics, McGill University, Montreal, QC, Canada.
  12. Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  13. McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada.

PMID: 31681433 PMCID: PMC6813924 DOI: 10.3389/fgene.2019.01005

Abstract

Approximately 10% of breast cancer (BC) cases are hereditary BC (HBC), with HBC most commonly encountered in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Although thousands of loss-of-function (LoF) alleles in over 20 genes have been associated with HBC susceptibility, the genetic etiology of approximately 50% of cases remains unexplained, even when polygenic risk models are considered. We focused on one of the least-studied European populations and applied whole-exome sequencing (WES) to 52 individuals from 17 Greek HBOC families, in which at least one patient was negative for known HBC risk variants. Initial screening revealed pathogenic variants in known cancer genes, including

Copyright © 2019 Glentis, Dimopoulos, Rouskas, Ntritsos, Evangelou, Narod, Mes-Masson, Foulkes, Rivera, Tonin, Ragoussis and Dimas.

Keywords: Greek population; MDM1; NBEAL1; candidate risk variants; exome sequencing; hereditary breast cancer

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