Abstract
Original language | English |
---|---|
Pages (from-to) | e1-e23 |
Journal | Hum. Mutat. |
Volume | 40 |
Issue number | 11 |
DOIs | |
Publication status | Published - 2019 |
Keywords
- BRCA1 BRCA2 mutational spectrum
- first pass genotyping
- inherited breast cancer
- Middle East
- North Africa
- underserved populations
- BRCA1 protein
- BRCA2 protein
- gene identification
- gene mutation
- gene sequence
- genetic variability
- genotype
- human
- North African
- Southern European
- systematic review
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The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries : Human Mutation. / Laitman, Y.; Friebel, T.M.; Yannoukakos, D. et al.
In: Hum. Mutat., Vol. 40, No. 11, 2019, p. e1-e23.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries
T2 - Human Mutation
AU - Laitman, Y.
AU - Friebel, T.M.
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 - Plaseska-Karanfilska, D.
AU - Jakimovska, M.
AU - Majidzadeh, K.
AU - Zarinfam, S.
AU - Loizidou, M.A.
AU - Hadjisavvas, A.
AU - Michailidou, K.
AU - Kyriacou, K.
AU - Behar, D.M.
AU - Molho, R.B.
AU - Ganz, P.
AU - James, P.
AU - Parsons, M.T.
AU - Sallam, A.
AU - Olopade, O.I.
AU - Seth, A.
AU - Chenevix - Trench, G.
AU - Leslie, G.
AU - McGuffog, L.
AU - Marafie, M.J.
AU - Megarbane, A.
AU - Al-Mulla, F.
AU - Rebbeck, T.R.
AU - Friedman, E.
N1 - Export Date: 27 February 2020 CODEN: HUMUE Correspondence Address: Friedman, E.; The Susanne Levy Gertner Oncogenetics Unit, The Institute of Human Genetics, Sheba Medical CenterIsrael; email: eitan.friedman@sheba.health.gov.il Funding details: General Secretariat for Research and Technology, GSRT Funding details: Breast Cancer Research Foundation, BCRF Funding details: National Health and Medical Research Council, NHMRC Funding details: Dr. Ralph and Marian Falk Medical Research Trust Funding details: Associazione Italiana per la Ricerca sul Cancro, AIRC Funding details: Canadian Institutes of Health Research, CIHR Funding details: C12292/A11174, C12292/A20861 Funding details: Kuwait Foundation for the Advancement of Sciences, KFAS, P11613MG02, 2011130206 Funding details: College of Environmental Science and Forestry, State University of New York, ESF Funding details: R01 CA142996, CA116201, 1U01CA161032, CA125183 Funding details: CRN‐87521 Funding details: Susan G. Komen for the Cure Funding details: Cancer Research UK, CRUK, C1287/A 10710, C8197/A16565, C5047/A15007, C5047/A10692, C1287/A10118, C1281/A12014, C5047/A8384 Funding details: Asthma Foundation of Western Australia Funding details: European Social Fund, ESF Funding details: Ministère du Développement Économique, de l’Innovation et de l’Exportation, MDEIE, PSR‐SIIRI‐701 Funding details: Ovarian Cancer Research Fund, OCRF Funding details: National Institutes of Health, NIH, 1U19 CA148112, 1U19 CA148537, CA128978, 1U19 CA148065 Funding details: European Commission, EC Funding details: National Institutes of Health, NIH, CA116167, CA192393, CA176785 Funding details: Associazione Italiana per la Ricerca sul Cancro, AIRC, 16732 Funding details: Seventh Framework Programme, FP7, 223175, HEALTH‐F2‐2009‐223175 Funding details: National Breast Cancer Foundation, NBCF Funding details: Department of Defence, Australian Government, W81XWH‐10‐1‐0341 Funding text 1: CIMBA: The CIMBA data management and data analysis were supported by Cancer Research – UK grants C12292/A20861, C12292/A11174. iCOGS: the European Community's Seventh Framework Programme under grant agreement no. 223175 (HEALTH‐F2‐2009‐223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post‐Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065, and 1U19 CA148112—the GAME‐ON initiative), the Department of Defence (W81XWH‐10‐1‐0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer (CRN‐87521), and the Ministry of Economic Development, Innovation and Export Trade (PSR‐SIIRI‐701), Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The work of Barbara Pasini has been supported by the program “Dipartimenti di Eccellenza 2018–2022.” Project no. D15D18000410001. This work was partially funded by the “Associazione Italiana Ricerca Cancro (AIRC)”; IG2015 no.16732) to P. Peterlongo. Funds from Italian citizens who allocated the 5x1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT‐Institutional strategic projects “5x1000”) to S. Manoukian. DEMOKRITOS: European Union (European Social Fund – ESF) and Greek national funds through the Operational Program “Education and Lifelong Learning” of the National Strategic Reference Framework (NSRF) – Research Funding Program of the General Secretariat for Research & Technology: SYN11_10_19 NBCA. kConFab: The National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. MAYO: NIH grants CA116167, CA192393, and CA176785, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201) and a grant from the Breast Cancer Research Foundation. UCHICAGO: NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01CA161032 and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women's Cancer Research Alliance and the Breast Cancer research Foundation. OIO is an ACS Clinical Research Professor. UCLA: Jonsson Comprehensive Cancer Center Foundation; Breast Cancer Research Foundation. Fahd Al‐Mulla is funded by Kuwait Foundation for the Advancement of Sciences grant number 2011130206 and P11613MG02. 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PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - BRCA1 BRCA2 mutational spectrum
KW - first pass genotyping
KW - inherited breast cancer
KW - Middle East
KW - North Africa
KW - underserved populations
KW - BRCA1 protein
KW - BRCA2 protein
KW - gene identification
KW - gene mutation
KW - gene sequence
KW - genetic variability
KW - genotype
KW - human
KW - North African
KW - Southern European
KW - systematic review
U2 - 10.1002/humu.23842
DO - 10.1002/humu.23842
M3 - Article
VL - 40
SP - e1-e23
JO - Hum. Mutat.
JF - Hum. Mutat.
SN - 1059-7794
IS - 11
ER -