The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

Author:

Laitman Yael1ORCID,Friebel Tara M.2ORCID,Yannoukakos Drakoulis3ORCID,Fostira Florentia3ORCID,Konstantopoulou Irene3ORCID,Figlioli Gisella4ORCID,Bonanni Bernardo5ORCID,Manoukian Siranoush6,Zuradelli Monica7,Tondini Carlo8ORCID,Pasini Barbara9ORCID,Peterlongo Paolo4,Plaseska‐Karanfilska Dijana10ORCID,Jakimovska Milena10ORCID,Majidzadeh Keivan11ORCID,Zarinfam Shiva11ORCID,Loizidou Maria A.12ORCID,Hadjisavvas Andreas12ORCID,Michailidou Kyriaki12ORCID,Kyriacou Kyriacos12ORCID,Behar Doron M.13ORCID,Molho Rinat Bernstein1415ORCID,Ganz Patricia16ORCID,James Paul17ORCID,Parsons Michael T.18ORCID,Sallam Aminah19ORCID,Olopade Olufunmilayo I.19ORCID,Seth Arun20ORCID,Chenevix ‐ Trench Georgia18ORCID,Leslie Goska21ORCID,McGuffog Lesley21ORCID,Marafie Makia J22ORCID,Megarbane Andre23ORCID,Al‐Mulla Fahd24ORCID,Rebbeck Timothy R.225ORCID,Friedman Eitan115ORCID

Affiliation:

1. The Susanne Levy Gertner Oncogenetics Unit The Institute of Human Genetics, Sheba Medical Center Tel‐Hashomer Israel

2. Dana‐Farber Cancer Institute Boston MA

3. Molecular Diagnostics Laboratory, INRASTES National Centre for Scientific Research Demokritos Athens Greece

4. Genome Diagnostics Program IFOM, the FIRC Institute of Molecular Oncology Milan Italy

5. Division of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS Milan Italy

6. Unit of Medical Genetics, Department of Medical Oncology and Hematology Fondazione IRCCS Istituto Nazionale dei Tumori (INT) Milan Italy

7. Medical Oncology and Hematology Department Humanitas Cancer Center Milan Italy

8. Department of Medical Oncology Ospedale Papa Giovanni XXIII Bergamo Italy

9. Department of Medical Sciences University of Turin Turin Italy

10. Macedonian Academy of Sciences and Arts Research Centre for Genetic Engineering and Biotechnology Skopje Republic of Macedonia

11. Department of Genetics, Breast Cancer Research Center, Motamed Cancer Institute ACECR Tehran Iran

12. Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics The Cyprus School of Molecular Medicine Nicosia Cyprus

13. Igentify Tirat Hacrmel Israel

14. The Institute of Oncology Sheba Medical Center Tel‐Hashomer Israel

15. The Sackler School of Medicine Tel‐Aviv University Tel‐Aviv Israel

16. Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research Jonsson Comprehensive Cancer Centre, UCLA Los Angeles CA

17. Parkville Familial Cancer Peter MacCallum Cancer Center, Sir Peter MacCallum Department of Oncology The University of Melbourne Melbourne Victoria Australia

18. Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute Queensland Institute of Medical Research Brisbane Australia

19. Center for Clinical Cancer Genetics The University of Chicago Chicago IL

20. Department of Laboratory Medicine and Pathobiology, Faculty of Medicine University of Toronto Canada

21. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care University of Cambridge Cambridge England

22. Kuwait Medical Genetics Center Maternity Hospital Kuwait

23. Institut Jerome Lejeune Paris France

24. Department of Genetics and Bioinformatics Dasman Diabetes Institute Kuwait City Kuwait

25. Harvard T.H. Chan School of Public Health Boston MA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference42 articles.

1. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early‐onset breast cancer patients among Ashkenazi women;Abeliovich D.;American Journal of Human Genetics,1997

2. Predominance of high-grade pathway in breast cancer development of Middle East women

3. G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

4. Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation

5. Lifestyle related risk factors for breast cancer in Jordanian females;Atoum M. F.;Saudi Medical Journal,2004

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