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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the <italic>BRCA1</italic> gene</title><author><name sortKey="Jouali, Farah" sort="Jouali, Farah" uniqKey="Jouali F" first="Farah" last="Jouali">Farah Jouali</name><affiliation><nlm:aff id="af1-ol-0-0-4739">Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af2-ol-0-0-4739">Laboratory of Pathophysiology and Molecular Genetics, Ben M'Sik Faculty of Science, Casablanca 7955, Morocco</nlm:aff></affiliation></author><author><name sortKey="Laarabi, Fatima Zahra" sort="Laarabi, Fatima Zahra" uniqKey="Laarabi F" first="Fatima-Zahra" last="Laarabi">Fatima-Zahra Laarabi</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation></author><author><name sortKey="Marchoudi, Nabila" sort="Marchoudi, Nabila" uniqKey="Marchoudi N" first="Nabila" last="Marchoudi">Nabila Marchoudi</name><affiliation><nlm:aff id="af1-ol-0-0-4739">Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</nlm:aff></affiliation></author><author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af4-ol-0-0-4739">Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</nlm:aff></affiliation></author><author><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af4-ol-0-0-4739">Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</nlm:aff></affiliation></author><author><name sortKey="Rhaissi, Houria" sort="Rhaissi, Houria" uniqKey="Rhaissi H" first="Houria" last="Rhaissi">Houria Rhaissi</name><affiliation><nlm:aff id="af2-ol-0-0-4739">Laboratory of Pathophysiology and Molecular Genetics, Ben M'Sik Faculty of Science, Casablanca 7955, Morocco</nlm:aff></affiliation></author><author><name sortKey="Fekkak, Jamal" sort="Fekkak, Jamal" uniqKey="Fekkak J" first="Jamal" last="Fekkak">Jamal Fekkak</name><affiliation><nlm:aff id="af1-ol-0-0-4739">Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</nlm:aff></affiliation></author><author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af4-ol-0-0-4739">Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27446417</idno><idno type="pmc">4950805</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950805</idno><idno type="RBID">PMC:4950805</idno><idno type="doi">10.3892/ol.2016.4739</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000008</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000008</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the <italic>BRCA1</italic> gene</title><author><name sortKey="Jouali, Farah" sort="Jouali, Farah" uniqKey="Jouali F" first="Farah" last="Jouali">Farah Jouali</name><affiliation><nlm:aff id="af1-ol-0-0-4739">Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af2-ol-0-0-4739">Laboratory of Pathophysiology and Molecular Genetics, Ben M'Sik Faculty of Science, Casablanca 7955, Morocco</nlm:aff></affiliation></author><author><name sortKey="Laarabi, Fatima Zahra" sort="Laarabi, Fatima Zahra" uniqKey="Laarabi F" first="Fatima-Zahra" last="Laarabi">Fatima-Zahra Laarabi</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation></author><author><name sortKey="Marchoudi, Nabila" sort="Marchoudi, Nabila" uniqKey="Marchoudi N" first="Nabila" last="Marchoudi">Nabila Marchoudi</name><affiliation><nlm:aff id="af1-ol-0-0-4739">Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</nlm:aff></affiliation></author><author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af4-ol-0-0-4739">Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</nlm:aff></affiliation></author><author><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af4-ol-0-0-4739">Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</nlm:aff></affiliation></author><author><name sortKey="Rhaissi, Houria" sort="Rhaissi, Houria" uniqKey="Rhaissi H" first="Houria" last="Rhaissi">Houria Rhaissi</name><affiliation><nlm:aff id="af2-ol-0-0-4739">Laboratory of Pathophysiology and Molecular Genetics, Ben M'Sik Faculty of Science, Casablanca 7955, Morocco</nlm:aff></affiliation></author><author><name sortKey="Fekkak, Jamal" sort="Fekkak, Jamal" uniqKey="Fekkak J" first="Jamal" last="Fekkak">Jamal Fekkak</name><affiliation><nlm:aff id="af1-ol-0-0-4739">Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</nlm:aff></affiliation></author><author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name><affiliation><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff></affiliation><affiliation><nlm:aff id="af4-ol-0-0-4739">Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</nlm:aff></affiliation></author></analytic><series><title level="j">Oncology Letters</title><idno type="ISSN">1792-1074</idno><idno type="eISSN">1792-1082</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>At present, breast cancer is the most common type of cancer in females. The majority of cases are sporadic, but 5–10% are due to an inherited predisposition to develop breast and ovarian cancers, which are transmitted as an autosomal dominant form with incomplete penetrance. The beneficial effects of clinical genetic testing, including next generation sequencing (NGS) for <italic>BRCA1/2</italic> mutations, is major; in particular, it benefits the care of patients and the counseling of relatives that are at risk of breast cancer, in order to reduce breast cancer mortality. <italic>BRCA</italic> genetic testing was performed in 15 patients with breast cancer and a family with positivity for the heterozygous c.6428C>A mutation of the <italic>BRCA2</italic> gene. Informed consent was obtained from all the subjects. Genomic DNAs were extracted and the NGS for genes was performed using the Ion Torrent Personal Genome Machine (PGM) with a 316 chip. The reads were aligned with the human reference HG19 genome to elucidate variants in the <italic>BRCA1</italic> and <italic>BRCA2</italic> genes. Mutations detected by the PGM platform were confirmed by target direct Sanger sequencing on a second patient DNA sample. In total, 4 <italic>BRCA</italic> variants were identified in 6 families by NGS. Of these, 3 mutations had been previously reported: c.2126insA of <italic>BRCA1</italic>, and c.1310_1313delAAGA and c.7235insG of <italic>BRCA2</italic>. The fourth variant, c.3453delT in <italic>BRCA1</italic>, has, to the best of our knowledge, never been previously reported. The present study is the first to apply NGS of the <italic>BRCA1</italic> and <italic>BRCA2</italic> genes to a Moroccan population, prompting additional investigation into local founder mutations and variant characteristics in the region. The variants with no clear clinical significance may present a diagnostic challenge when performing targeted resequencing. These results confirm that an NGS approach based on Ampliseq libraries and PGM sequencing is a highly efficient, speedy and high-throughput mutation detection method, which may be preferable in lower income countries.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Oncol Lett</journal-id><journal-id journal-id-type="iso-abbrev">Oncol Lett</journal-id><journal-id journal-id-type="publisher-id">OL</journal-id><journal-title-group><journal-title>Oncology Letters</journal-title></journal-title-group><issn pub-type="ppub">1792-1074</issn><issn pub-type="epub">1792-1082</issn><publisher><publisher-name>D.A. Spandidos</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27446417</article-id><article-id pub-id-type="pmc">4950805</article-id><article-id pub-id-type="doi">10.3892/ol.2016.4739</article-id><article-id pub-id-type="publisher-id">OL-0-0-4739</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject></subj-group></article-categories><title-group><article-title>First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the <italic>BRCA1</italic> gene</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Jouali</surname><given-names>Farah</given-names></name><xref ref-type="aff" rid="af1-ol-0-0-4739">1</xref><xref ref-type="aff" rid="af2-ol-0-0-4739">2</xref></contrib><contrib contrib-type="author"><name><surname>Laarabi</surname><given-names>Fatima-Zahra</given-names></name><xref ref-type="aff" rid="af3-ol-0-0-4739">3</xref></contrib><contrib contrib-type="author"><name><surname>Marchoudi</surname><given-names>Nabila</given-names></name><xref ref-type="aff" rid="af1-ol-0-0-4739">1</xref></contrib><contrib contrib-type="author"><name><surname>Ratbi</surname><given-names>Ilham</given-names></name><xref ref-type="aff" rid="af3-ol-0-0-4739">3</xref><xref ref-type="aff" rid="af4-ol-0-0-4739">4</xref></contrib><contrib contrib-type="author"><name><surname>Elalaoui</surname><given-names>Siham Chafai</given-names></name><xref ref-type="aff" rid="af3-ol-0-0-4739">3</xref><xref ref-type="aff" rid="af4-ol-0-0-4739">4</xref></contrib><contrib contrib-type="author"><name><surname>Rhaissi</surname><given-names>Houria</given-names></name><xref ref-type="aff" rid="af2-ol-0-0-4739">2</xref></contrib><contrib contrib-type="author"><name><surname>Fekkak</surname><given-names>Jamal</given-names></name><xref ref-type="aff" rid="af1-ol-0-0-4739">1</xref></contrib><contrib contrib-type="author"><name><surname>Sefiani</surname><given-names>Abdelaziz</given-names></name><xref ref-type="aff" rid="af3-ol-0-0-4739">3</xref><xref ref-type="aff" rid="af4-ol-0-0-4739">4</xref><xref rid="c1-ol-0-0-4739" ref-type="corresp"></xref></contrib></contrib-group><aff id="af1-ol-0-0-4739"><label>1</label>Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</aff><aff id="af2-ol-0-0-4739"><label>2</label>Laboratory of Pathophysiology and Molecular Genetics, Ben M'Sik Faculty of Science, Casablanca 7955, Morocco</aff><aff id="af3-ol-0-0-4739"><label>3</label>Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</aff><aff id="af4-ol-0-0-4739"><label>4</label>Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</aff><author-notes><corresp id="c1-ol-0-0-4739"><italic>Correspondence to</italic>: Professor Abdelaziz Sefiani, Department of Medical Genetics, National Institute of Health, 27 IbnBatouta Avenue, Rabat 769, Morocco, E-mail: <email>a.sefiani@um5s.net.ma</email></corresp></author-notes><pub-date pub-type="ppub"><month>8</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>16</day><month>6</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>16</day><month>6</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>12</volume><issue>2</issue><fpage>1192</fpage><lpage>1196</lpage><history><date date-type="received"><day>08</day><month>7</month><year>2015</year></date><date date-type="accepted"><day>24</day><month>5</month><year>2016</year></date></history><permissions><copyright-statement>Copyright © 2016, Spandidos Publications</copyright-statement><copyright-year>2016</copyright-year></permissions><abstract><p>At present, breast cancer is the most common type of cancer in females. The majority of cases are sporadic, but 5–10% are due to an inherited predisposition to develop breast and ovarian cancers, which are transmitted as an autosomal dominant form with incomplete penetrance. The beneficial effects of clinical genetic testing, including next generation sequencing (NGS) for <italic>BRCA1/2</italic> mutations, is major; in particular, it benefits the care of patients and the counseling of relatives that are at risk of breast cancer, in order to reduce breast cancer mortality. <italic>BRCA</italic> genetic testing was performed in 15 patients with breast cancer and a family with positivity for the heterozygous c.6428C>A mutation of the <italic>BRCA2</italic> gene. Informed consent was obtained from all the subjects. Genomic DNAs were extracted and the NGS for genes was performed using the Ion Torrent Personal Genome Machine (PGM) with a 316 chip. The reads were aligned with the human reference HG19 genome to elucidate variants in the <italic>BRCA1</italic> and <italic>BRCA2</italic> genes. Mutations detected by the PGM platform were confirmed by target direct Sanger sequencing on a second patient DNA sample. In total, 4 <italic>BRCA</italic> variants were identified in 6 families by NGS. Of these, 3 mutations had been previously reported: c.2126insA of <italic>BRCA1</italic>, and c.1310_1313delAAGA and c.7235insG of <italic>BRCA2</italic>. The fourth variant, c.3453delT in <italic>BRCA1</italic>, has, to the best of our knowledge, never been previously reported. The present study is the first to apply NGS of the <italic>BRCA1</italic> and <italic>BRCA2</italic> genes to a Moroccan population, prompting additional investigation into local founder mutations and variant characteristics in the region. The variants with no clear clinical significance may present a diagnostic challenge when performing targeted resequencing. These results confirm that an NGS approach based on Ampliseq libraries and PGM sequencing is a highly efficient, speedy and high-throughput mutation detection method, which may be preferable in lower income countries.</p></abstract><kwd-group><kwd>Moroccan</kwd><kwd>families</kwd><kwd>breast cancer</kwd><kwd><italic>BRCA1</italic></kwd><kwd><italic>BRCA2</italic></kwd><kwd>mutation</kwd><kwd>next generation sequencing</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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