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}

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in PUBMED, EMBASE, BIC, and CIMBA was carried out combined with outreach to researchers from the relevant countries for unpublished data.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.

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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 -

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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Abstract