The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries
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 path...
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| Veröffentlicht in: | Human mutation 2019-11, Vol.40 (11), p.e1-e23 |
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| creator | Laitman, Yael Friebel, Tara M. Yannoukakos, Drakoulis Fostira, Florentia Konstantopoulou, Irene Figlioli, Gisella Bonanni, Bernardo Manoukian, Siranoush Zuradelli, Monica Tondini, Carlo Pasini, Barbara Peterlongo, Paolo Plaseska‐Karanfilska, Dijana Jakimovska, Milena Majidzadeh, Keivan Zarinfam, Shiva Loizidou, Maria A. Hadjisavvas, Andreas Michailidou, Kyriaki Kyriacou, Kyriacos Behar, Doron M. Molho, Rinat Bernstein Ganz, Patricia James, Paul Parsons, Michael T. Sallam, Aminah Olopade, Olufunmilayo I. Seth, Arun Chenevix ‐ Trench, Georgia Leslie, Goska McGuffog, Lesley Marafie, Makia J Megarbane, Andre Al‐Mulla, Fahd Rebbeck, Timothy R. Friedman, Eitan |
| description | 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in PUBMED, EMBASE, BIC, and CIMBA was carried out combined with outreach to researchers from the relevant countries for unpublished data.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.
Data Repository Information
LOVD: https://databases.lovd.nl/shared/variants#order=VariantOnGenome&search_VariantOnGenome/Reference=Laitman |
| doi_str_mv | 10.1002/humu.23842 |
| format | Article |
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Data Repository Information
LOVD: https://databases.lovd.nl/shared/variants#order=VariantOnGenome&search_VariantOnGenome/Reference=Laitman</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/humu.23842</identifier><identifier>PMID: 31209999</identifier><language>eng</language><publisher>United States: Hindawi Limited</publisher><subject>Africa, Northern ; Alleles ; Black People ; BRCA1 BRCA2 mutational spectrum ; BRCA1 protein ; BRCA1 Protein - genetics ; BRCA2 protein ; BRCA2 Protein - genetics ; Breast cancer ; Consanguinity ; Data Mining ; Databases, Genetic ; Europe ; first pass genotyping ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Genotyping ; Humans ; Inbreeding ; inherited breast cancer ; Middle East ; North Africa ; Population Groups - genetics ; Research Design ; underserved populations ; White People</subject><ispartof>Human mutation, 2019-11, Vol.40 (11), p.e1-e23</ispartof><rights>2019 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3932-15b0642ee28589aefa9b52589a31c6113e6397262f7c8db119117952e6097d223</citedby><cites>FETCH-LOGICAL-c3932-15b0642ee28589aefa9b52589a31c6113e6397262f7c8db119117952e6097d223</cites><orcidid>0000-0001-7338-0233 ; 0000-0002-1506-0669 ; 0000-0001-5756-6222 ; 0000-0003-2990-8349 ; 0000-0002-1878-2587 ; 0000-0002-8811-0997 ; 0000-0003-1237-0546 ; 0000-0001-7509-3510 ; 0000-0002-0740-1363 ; 0000-0003-4503-7758 ; 0000-0002-5636-0799 ; 0000-0002-2623-4599 ; 0000-0002-4373-1212 ; 0000-0001-7065-1237 ; 0000-0003-3242-8477 ; 0000-0002-4635-0730 ; 0000-0002-5715-8736 ; 0000-0002-9936-1599 ; 0000-0002-4799-1900 ; 0000-0003-0714-2469 ; 0000-0002-4361-4657 ; 0000-0003-0635-8954 ; 0000-0003-3702-6266 ; 0000-0003-3589-2128 ; 0000-0002-6745-1733 ; 0000-0001-8877-2416 ; 0000-0003-0853-2039 ; 0000-0001-5409-3829 ; 0000-0002-4068-9514 ; 0000-0002-1841-4143 ; 0000-0003-2751-2332 ; 0000-0002-3726-9527 ; 0000-0002-0470-0309</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhumu.23842$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhumu.23842$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31209999$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Laitman, Yael</creatorcontrib><creatorcontrib>Friebel, Tara M.</creatorcontrib><creatorcontrib>Yannoukakos, Drakoulis</creatorcontrib><creatorcontrib>Fostira, Florentia</creatorcontrib><creatorcontrib>Konstantopoulou, Irene</creatorcontrib><creatorcontrib>Figlioli, Gisella</creatorcontrib><creatorcontrib>Bonanni, Bernardo</creatorcontrib><creatorcontrib>Manoukian, Siranoush</creatorcontrib><creatorcontrib>Zuradelli, Monica</creatorcontrib><creatorcontrib>Tondini, Carlo</creatorcontrib><creatorcontrib>Pasini, Barbara</creatorcontrib><creatorcontrib>Peterlongo, Paolo</creatorcontrib><creatorcontrib>Plaseska‐Karanfilska, Dijana</creatorcontrib><creatorcontrib>Jakimovska, Milena</creatorcontrib><creatorcontrib>Majidzadeh, Keivan</creatorcontrib><creatorcontrib>Zarinfam, Shiva</creatorcontrib><creatorcontrib>Loizidou, Maria A.</creatorcontrib><creatorcontrib>Hadjisavvas, Andreas</creatorcontrib><creatorcontrib>Michailidou, Kyriaki</creatorcontrib><creatorcontrib>Kyriacou, Kyriacos</creatorcontrib><creatorcontrib>Behar, Doron M.</creatorcontrib><creatorcontrib>Molho, Rinat Bernstein</creatorcontrib><creatorcontrib>Ganz, Patricia</creatorcontrib><creatorcontrib>James, Paul</creatorcontrib><creatorcontrib>Parsons, Michael T.</creatorcontrib><creatorcontrib>Sallam, Aminah</creatorcontrib><creatorcontrib>Olopade, Olufunmilayo I.</creatorcontrib><creatorcontrib>Seth, Arun</creatorcontrib><creatorcontrib>Chenevix ‐ Trench, Georgia</creatorcontrib><creatorcontrib>Leslie, Goska</creatorcontrib><creatorcontrib>McGuffog, Lesley</creatorcontrib><creatorcontrib>Marafie, Makia J</creatorcontrib><creatorcontrib>Megarbane, Andre</creatorcontrib><creatorcontrib>Al‐Mulla, Fahd</creatorcontrib><creatorcontrib>Rebbeck, Timothy R.</creatorcontrib><creatorcontrib>Friedman, Eitan</creatorcontrib><title>The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries</title><title>Human mutation</title><addtitle>Hum Mutat</addtitle><description>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.
Data Repository Information
LOVD: https://databases.lovd.nl/shared/variants#order=VariantOnGenome&search_VariantOnGenome/Reference=Laitman</description><subject>Africa, Northern</subject><subject>Alleles</subject><subject>Black People</subject><subject>BRCA1 BRCA2 mutational spectrum</subject><subject>BRCA1 protein</subject><subject>BRCA1 Protein - genetics</subject><subject>BRCA2 protein</subject><subject>BRCA2 Protein - genetics</subject><subject>Breast cancer</subject><subject>Consanguinity</subject><subject>Data Mining</subject><subject>Databases, Genetic</subject><subject>Europe</subject><subject>first pass genotyping</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Variation</subject><subject>Genotype</subject><subject>Genotyping</subject><subject>Humans</subject><subject>Inbreeding</subject><subject>inherited breast cancer</subject><subject>Middle East</subject><subject>North Africa</subject><subject>Population Groups - genetics</subject><subject>Research Design</subject><subject>underserved populations</subject><subject>White People</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kV1rFDEUhoNYbK3e-AMk4I1IpyYn85XLdVlboVXQ7nXIZs64KTPJmEyU4p83061e9MIQyJvDw0PCS8grzs45Y_B-n8Z0DqIt4Qk54Uy2RR6XT5dcyaJpZHlMnsd4yxhrq0o8I8eCA5N5nZDfN3ukcUIzhzRS39MPX9crTrXr7hPQSc97_x2dNTTij4TOIP2pg9VujtQ6em27bkC60XHG4M7oZx_mPV31wRqdr4vom095tEnBT6gdNT65OViML8hRr4eILx_OU7L9uLlZXxZXXy4-rVdXhRFSQMGrHatLQIS2aqXGXstdBUsU3NScC6yFbKCGvjFtt-Ncct7ICrBmsukAxCl5e_BOwecfxFmNNhocBu3Qp6gASmg5iLLO6JtH6K1PweXXKRCsybvmIlPvDpQJPsaAvZqCHXW4U5yppRK1VKLuK8nw6wdl2o3Y_UP_dpABfgB-2QHv_qNSl9vr7UH6B84vlAQ</recordid><startdate>201911</startdate><enddate>201911</enddate><creator>Laitman, Yael</creator><creator>Friebel, Tara M.</creator><creator>Yannoukakos, Drakoulis</creator><creator>Fostira, 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spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries</title><author>Laitman, Yael ; Friebel, Tara M. ; Yannoukakos, Drakoulis ; Fostira, Florentia ; Konstantopoulou, Irene ; Figlioli, Gisella ; Bonanni, Bernardo ; Manoukian, Siranoush ; Zuradelli, Monica ; Tondini, Carlo ; Pasini, Barbara ; Peterlongo, Paolo ; Plaseska‐Karanfilska, Dijana ; Jakimovska, Milena ; Majidzadeh, Keivan ; Zarinfam, Shiva ; Loizidou, Maria A. ; Hadjisavvas, Andreas ; Michailidou, Kyriaki ; Kyriacou, Kyriacos ; Behar, Doron M. ; Molho, Rinat Bernstein ; Ganz, Patricia ; James, Paul ; Parsons, Michael T. ; Sallam, Aminah ; Olopade, Olufunmilayo I. ; Seth, Arun ; Chenevix ‐ Trench, Georgia ; Leslie, Goska ; McGuffog, Lesley ; Marafie, Makia J ; Megarbane, Andre ; Al‐Mulla, Fahd ; Rebbeck, Timothy R. ; Friedman, Eitan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3932-15b0642ee28589aefa9b52589a31c6113e6397262f7c8db119117952e6097d223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Africa, Northern</topic><topic>Alleles</topic><topic>Black People</topic><topic>BRCA1 BRCA2 mutational spectrum</topic><topic>BRCA1 protein</topic><topic>BRCA1 Protein - genetics</topic><topic>BRCA2 protein</topic><topic>BRCA2 Protein - genetics</topic><topic>Breast cancer</topic><topic>Consanguinity</topic><topic>Data Mining</topic><topic>Databases, Genetic</topic><topic>Europe</topic><topic>first pass genotyping</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation</topic><topic>Genotype</topic><topic>Genotyping</topic><topic>Humans</topic><topic>Inbreeding</topic><topic>inherited breast cancer</topic><topic>Middle East</topic><topic>North Africa</topic><topic>Population Groups - genetics</topic><topic>Research Design</topic><topic>underserved populations</topic><topic>White People</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Laitman, Yael</creatorcontrib><creatorcontrib>Friebel, Tara M.</creatorcontrib><creatorcontrib>Yannoukakos, Drakoulis</creatorcontrib><creatorcontrib>Fostira, Florentia</creatorcontrib><creatorcontrib>Konstantopoulou, Irene</creatorcontrib><creatorcontrib>Figlioli, Gisella</creatorcontrib><creatorcontrib>Bonanni, Bernardo</creatorcontrib><creatorcontrib>Manoukian, Siranoush</creatorcontrib><creatorcontrib>Zuradelli, Monica</creatorcontrib><creatorcontrib>Tondini, Carlo</creatorcontrib><creatorcontrib>Pasini, Barbara</creatorcontrib><creatorcontrib>Peterlongo, Paolo</creatorcontrib><creatorcontrib>Plaseska‐Karanfilska, Dijana</creatorcontrib><creatorcontrib>Jakimovska, Milena</creatorcontrib><creatorcontrib>Majidzadeh, Keivan</creatorcontrib><creatorcontrib>Zarinfam, Shiva</creatorcontrib><creatorcontrib>Loizidou, Maria A.</creatorcontrib><creatorcontrib>Hadjisavvas, Andreas</creatorcontrib><creatorcontrib>Michailidou, Kyriaki</creatorcontrib><creatorcontrib>Kyriacou, Kyriacos</creatorcontrib><creatorcontrib>Behar, Doron M.</creatorcontrib><creatorcontrib>Molho, Rinat Bernstein</creatorcontrib><creatorcontrib>Ganz, Patricia</creatorcontrib><creatorcontrib>James, Paul</creatorcontrib><creatorcontrib>Parsons, Michael T.</creatorcontrib><creatorcontrib>Sallam, Aminah</creatorcontrib><creatorcontrib>Olopade, Olufunmilayo I.</creatorcontrib><creatorcontrib>Seth, Arun</creatorcontrib><creatorcontrib>Chenevix ‐ Trench, Georgia</creatorcontrib><creatorcontrib>Leslie, Goska</creatorcontrib><creatorcontrib>McGuffog, Lesley</creatorcontrib><creatorcontrib>Marafie, Makia J</creatorcontrib><creatorcontrib>Megarbane, Andre</creatorcontrib><creatorcontrib>Al‐Mulla, Fahd</creatorcontrib><creatorcontrib>Rebbeck, Timothy R.</creatorcontrib><creatorcontrib>Friedman, Eitan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Laitman, Yael</au><au>Friebel, Tara M.</au><au>Yannoukakos, Drakoulis</au><au>Fostira, Florentia</au><au>Konstantopoulou, Irene</au><au>Figlioli, Gisella</au><au>Bonanni, Bernardo</au><au>Manoukian, Siranoush</au><au>Zuradelli, Monica</au><au>Tondini, Carlo</au><au>Pasini, Barbara</au><au>Peterlongo, Paolo</au><au>Plaseska‐Karanfilska, Dijana</au><au>Jakimovska, Milena</au><au>Majidzadeh, Keivan</au><au>Zarinfam, Shiva</au><au>Loizidou, Maria A.</au><au>Hadjisavvas, Andreas</au><au>Michailidou, Kyriaki</au><au>Kyriacou, Kyriacos</au><au>Behar, Doron M.</au><au>Molho, Rinat Bernstein</au><au>Ganz, Patricia</au><au>James, Paul</au><au>Parsons, Michael T.</au><au>Sallam, Aminah</au><au>Olopade, Olufunmilayo I.</au><au>Seth, Arun</au><au>Chenevix ‐ Trench, Georgia</au><au>Leslie, Goska</au><au>McGuffog, Lesley</au><au>Marafie, Makia J</au><au>Megarbane, Andre</au><au>Al‐Mulla, Fahd</au><au>Rebbeck, Timothy R.</au><au>Friedman, Eitan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries</atitle><jtitle>Human mutation</jtitle><addtitle>Hum Mutat</addtitle><date>2019-11</date><risdate>2019</risdate><volume>40</volume><issue>11</issue><spage>e1</spage><epage>e23</epage><pages>e1-e23</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><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.
Data Repository Information
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| fulltext | fulltext |
| identifier | ISSN: 1059-7794 |
| ispartof | Human mutation, 2019-11, Vol.40 (11), p.e1-e23 |
| issn | 1059-7794 1098-1004 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2242812346 |
| source | MEDLINE; Access via Wiley Online Library |
| subjects | Africa, Northern Alleles Black People BRCA1 BRCA2 mutational spectrum BRCA1 protein BRCA1 Protein - genetics BRCA2 protein BRCA2 Protein - genetics Breast cancer Consanguinity Data Mining Databases, Genetic Europe first pass genotyping Genetic Predisposition to Disease Genetic Variation Genotype Genotyping Humans Inbreeding inherited breast cancer Middle East North Africa Population Groups - genetics Research Design underserved populations White People |
| title | The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries |
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