The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries

The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries Publisher Pubmed

Laitman Y¹ ; Friebel TM² ; Yannoukakos D³ ; Fostira F³ ; Konstantopoulou I³ ; Figlioli G⁴ ; Bonanni B⁵ ; Manoukian S⁶ ; Zuradelli M⁷ ; Tondini C⁸ ; Pasini B⁹ ; Peterlongo P⁴ ; Plaseskakaranfilska D¹⁰ ; Jakimovska M¹⁰ Show All Authors

Laitman Y¹
Friebel TM²
Yannoukakos D³
Fostira F³
Konstantopoulou I³
Figlioli G⁴
Bonanni B⁵
Manoukian S⁶
Zuradelli M⁷
Tondini C⁸
Pasini B⁹
Peterlongo P⁴
Plaseskakaranfilska D¹⁰
Jakimovska M¹⁰
Majidzadeh K¹¹
Zarinfam S¹¹
Loizidou MA¹²
Hadjisavvas A¹²
Michailidou K¹²
Kyriacou K¹²
Behar DM¹³
Molho RB^{14, 15}
Ganz P¹⁶
James P¹⁷
Parsons MT¹⁸
Sallam A¹⁹
Olopade OI¹⁹
Seth A²⁰
Chenevix Trench G¹⁸
Leslie G²¹
Mcguffog L²¹
Marafie MJ²²
Megarbane A²³
Almulla F²⁴
Rebbeck TR^{2, 25}
Friedman E^{1, 15}

Show Affiliations

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, United States
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, North 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, United States
17. Parkville Familial Cancer Peter MacCallum Cancer Center, Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC, 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, United States
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, United Kingdom
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, United States

Source: Human Mutation Published:2019

Abstract

BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history and cultural practices characterizing these regions, often involving consanguinity and inbreeding, plausibly led to the accumulation of population-specific founder pathogenic sequence variants (PSVs). To determine recurring BRCA PSVs in these locales, a search in PUBMED, EMBASE, BIC, and CIMBA was carried out combined with outreach to researchers from the relevant countries for unpublished data. We identified 232 PSVs in BRCA1 and 239 in BRCA2 in 25 of 33 countries surveyed. Common PSVs that were detected in four or more countries were c.5266dup (p.Gln1756Profs), c.181T>G (p.Cys61Gly), c.68_69del (p.Glu23Valfs), c.5030_5033del (p.Thr1677Ilefs), c.4327C>T (p.Arg1443Ter), c.5251C>T (p.Arg1751Ter), c.1016dup (p.Val340Glyfs), c.3700_3704del (p.Val1234Glnfs), c.4065_4068del (p.Asn1355Lysfs), c.1504_1508del (p.Leu502Alafs), c.843_846del (p.Ser282Tyrfs), c.798_799del (p.Ser267Lysfs), and c.3607C>T (p.Arg1203Ter) in BRCA1 and c.2808_2811del (p.Ala938Profs), c.5722_5723del (p.Leu1908Argfs), c.9097dup (p.Thr3033Asnfs), c.1310_1313del (p. p.Lys437Ilefs), and c.5946del (p.Ser1982Argfs) for BRCA2. Notably, some mutations (e.g., p.Asn257Lysfs (c.771_775del)) were observed in unrelated populations. Thus, seemingly genotyping recurring BRCA PSVs in specific populations may provide first pass BRCA genotyping platform. © 2019 Wiley Periodicals, Inc.

Style	Citing Format
MLA	Laitman Y, et al.. "The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries." Human Mutation, vol. 40, no. 11, 2019, pp. e1-e23.
APA	Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, Bonanni B, Manoukian S, Zuradelli M, Tondini C, Pasini B, Peterlongo P, Plaseskakaranfilska D, Jakimovska M, Majidzadeh K, Zarinfam S, Loizidou MA, Hadjisavvas A, Michailidou K, ... Friedman E (2019). The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries. Human Mutation, 40(11), e1-e23.
Chicago	Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, Bonanni B, et al.. "The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries." Human Mutation 40, no. 11 (2019): e1-e23.
Harvard	Laitman Y et al. (2019) 'The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries', Human Mutation, 40(11), pp. e1-e23.
Vancouver	Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, et al.. The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries. Human Mutation. 2019;40(11):e1-e23.
BibTex	@article{ author = {Laitman Y and Friebel TM and Yannoukakos D and Fostira F and Konstantopoulou I and Figlioli G and Bonanni B and Manoukian S and Zuradelli M and Tondini C and Pasini B and Peterlongo P and Plaseskakaranfilska D and Jakimovska M and Majidzadeh K and Zarinfam S and Loizidou MA and Hadjisavvas A and Michailidou K and Kyriacou K and Behar DM and Molho RB and Ganz P and James P and Parsons MT and Sallam A and Olopade OI and Seth A and Chenevix Trench G and Leslie G and Mcguffog L and Marafie MJ and Megarbane A and Almulla F and Rebbeck TR and Friedman E}, title = {The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries}, journal = {Human Mutation}, volume = {40}, number = {11}, pages = {e1-e23}, year = {2019} }
RIS	TY - JOUR AU - Laitman Y AU - Friebel TM AU - Yannoukakos D AU - Fostira F AU - Konstantopoulou I AU - Figlioli G AU - Bonanni B AU - Manoukian S AU - Zuradelli M AU - Tondini C AU - Pasini B AU - Peterlongo P AU - Plaseskakaranfilska D AU - Jakimovska M AU - Majidzadeh K AU - Zarinfam S AU - Loizidou MA AU - Hadjisavvas A AU - Michailidou K AU - Kyriacou K AU - Behar DM AU - Molho RB AU - Ganz P AU - James P AU - Parsons MT AU - Sallam A AU - Olopade OI AU - Seth A AU - Chenevix Trench G AU - Leslie G AU - Mcguffog L AU - Marafie MJ AU - Megarbane A AU - Almulla F AU - Rebbeck TR AU - Friedman E TI - The Spectrum of Brca1 and Brca2 Pathogenic Sequence Variants in Middle Eastern, North African, and South European Countries JO - Human Mutation VL - 40 IS - 11 SP - e1 EP - e23 PY - 2019 ER -

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