First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene
Identifieur interne : 000340 ( Main/Exploration ); précédent : 000339; suivant : 000341First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene
Auteurs : Farah Jouali [Maroc] ; Fatima-Zahra Laarabi [Maroc] ; Nabila Marchoudi [Maroc] ; Ilham Ratbi [Maroc] ; Siham Chafai Elalaoui [Maroc] ; Houria Rhaissi [Maroc] ; Jamal Fekkak [Maroc] ; Abdelaziz Sefiani [Maroc]Source :
- Oncology Letters [ 1792-1074 ] ; 2016.
Abstract
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
Url:
DOI: 10.3892/ol.2016.4739
PubMed: 27446417
PubMed Central: 4950805
Affiliations:
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<author><name sortKey="Laarabi, Fatima Zahra" sort="Laarabi, Fatima Zahra" uniqKey="Laarabi F" first="Fatima-Zahra" last="Laarabi">Fatima-Zahra Laarabi</name>
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<author><name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name>
<affiliation wicri:level="1"><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff>
<country xml:lang="fr">Maroc</country>
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<affiliation wicri:level="1"><nlm:aff id="af4-ol-0-0-4739">Human Genome Center, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat 8007, Morocco</nlm:aff>
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<author><name sortKey="Elalaoui, Siham Chafai" sort="Elalaoui, Siham Chafai" uniqKey="Elalaoui S" first="Siham Chafai" last="Elalaoui">Siham Chafai Elalaoui</name>
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<author><name sortKey="Rhaissi, Houria" sort="Rhaissi, Houria" uniqKey="Rhaissi H" first="Houria" last="Rhaissi">Houria Rhaissi</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Maroc</country>
<wicri:regionArea>Laboratory of Pathophysiology and Molecular Genetics, Ben M'Sik Faculty of Science, Casablanca 7955</wicri:regionArea>
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<author><name sortKey="Fekkak, Jamal" sort="Fekkak, Jamal" uniqKey="Fekkak J" first="Jamal" last="Fekkak">Jamal Fekkak</name>
<affiliation wicri:level="1"><nlm:aff id="af1-ol-0-0-4739">Anoual Laboratory of Radio-Immuno Analysis, Casablanca 20360, Morocco</nlm:aff>
<country xml:lang="fr">Maroc</country>
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<author><name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name>
<affiliation wicri:level="1"><nlm:aff id="af3-ol-0-0-4739">Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco</nlm:aff>
<country xml:lang="fr">Maroc</country>
<wicri:regionArea>Department of Medical Genetics, National Institute of Health, Rabat 769</wicri:regionArea>
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<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>
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<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>
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<name sortKey="Fekkak, Jamal" sort="Fekkak, Jamal" uniqKey="Fekkak J" first="Jamal" last="Fekkak">Jamal Fekkak</name>
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<name sortKey="Laarabi, Fatima Zahra" sort="Laarabi, Fatima Zahra" uniqKey="Laarabi F" first="Fatima-Zahra" last="Laarabi">Fatima-Zahra Laarabi</name>
<name sortKey="Marchoudi, Nabila" sort="Marchoudi, Nabila" uniqKey="Marchoudi N" first="Nabila" last="Marchoudi">Nabila Marchoudi</name>
<name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name>
<name sortKey="Ratbi, Ilham" sort="Ratbi, Ilham" uniqKey="Ratbi I" first="Ilham" last="Ratbi">Ilham Ratbi</name>
<name sortKey="Rhaissi, Houria" sort="Rhaissi, Houria" uniqKey="Rhaissi H" first="Houria" last="Rhaissi">Houria Rhaissi</name>
<name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name>
<name sortKey="Sefiani, Abdelaziz" sort="Sefiani, Abdelaziz" uniqKey="Sefiani A" first="Abdelaziz" last="Sefiani">Abdelaziz Sefiani</name>
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