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Article

First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene

  • Authors:
    • Farah Jouali
    • Fatima‑Zahra Laarabi
    • Nabila Marchoudi
    • Ilham Ratbi
    • Siham Chafai Elalaoui
    • Houria Rhaissi
    • Jamal Fekkak
    • Abdelaziz Sefiani
  • View Affiliations / Copyright

    Affiliations: Anoual Laboratory of Radio‑Immuno Analysis, Casablanca 20360, Morocco, Department of Medical Genetics, National Institute of Health, Rabat 769, Morocco, Laboratory of Pathophysiology and Molecular Genetics, Ben M'Sik Faculty of Science, Casablanca 7955, Morocco
  • Pages: 1192-1196
    |
    Published online on: June 16, 2016
       https://doi.org/10.3892/ol.2016.4739
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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 BRCA1/2 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. BRCA genetic testing was performed in 15 patients with breast cancer and a family with positivity for the heterozygous c.6428C>A mutation of the BRCA2 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 BRCA1 and BRCA2 genes. Mutations detected by the PGM platform were confirmed by target direct Sanger sequencing on a second patient DNA sample. In total, 4 BRCA variants were identified in 6 families by NGS. Of these, 3 mutations had been previously reported: c.2126insA of BRCA1, and c.1310_1313delAAGA and c.7235insG of BRCA2. The fourth variant, c.3453delT in BRCA1, has, to the best of our knowledge, never been previously reported. The present study is the first to apply NGS of the BRCA1 and BRCA2 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.
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1 

Willems PJ: Susceptibility genes in breast cancer: More is less? Clin Genet. 72:493–496. 2007. View Article : Google Scholar

2 

Lynch HT, Albano WA, Danes BS, Layton MA, Kimberling WJ, Lynch JF, Cheng SC, Costello KA, Mulcahy GM, Wagner CA, et al: Genetic predisposition to breast cancer. Cancer. 53:612–622. 1984. View Article : Google Scholar : PubMed/NCBI

3 

Claus EB, Schildkraut JM, Thompson WD and Risch NJ: The genetic attributable risk of breast and ovarian cancer. Cancer. 77:2318–2324. 1996. View Article : Google Scholar : PubMed/NCBI

4 

Robson ME, Boyd J, Borgen PI and Cody HS IIIrd: Hereditary breast cancer. Curr Probl Surg. 38:387–480. 2001. View Article : Google Scholar : PubMed/NCBI

5 

Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA and Narod SA: Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in ontario, canada. J Natl Cancer Inst. 98:1694–1706. 2006. View Article : Google Scholar : PubMed/NCBI

6 

Culver J, Lowstuter K and Bowling L: Assessing breast cancer risk and BRCA1/2 carrier probability. Breast Dis. 27:5–20. 2006. View Article : Google Scholar : PubMed/NCBI

7 

Evans DG and Howell A: Breast cancer risk-assessment models. Breast Cancer Res. 9:2132007. View Article : Google Scholar : PubMed/NCBI

8 

Mohamad HB and Apffelstaedt JP: Counseling for male BRCA mutation carriers: A review. Breast. 17:441–450. 2008. View Article : Google Scholar : PubMed/NCBI

9 

Filippini S, Blanco A, Fernández-Marmiesse A, Alvarez-Iglesias V, Ruíz-Ponte C, Carracedo A and Vega A: Multiplex SNaPshot for detection of BRCA1/2 common mutations in spanish and spanish related breast/ovarian cancer families. BMC Med Genet. 8:402007. View Article : Google Scholar : PubMed/NCBI

10 

Laarabi FZ, Jaouad IC, Ouldim K, Aboussair N, Jalil A, Gueddari BE, Benjaafar N and Sefiani A: Genetic testing and first presymptomatic diagnosis in moroccan families at high risk for breast/ovarian cancer. Oncol Lett. 2:389–393. 2011.PubMed/NCBI

11 

Guaoua S, Ratbi I, Lyahyai J, El Alaoui SC, Laarabi FZ and Sefiani A: Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer. Afr Health Sci. 14:468–471. 2014. View Article : Google Scholar : PubMed/NCBI

12 

Miller SA, Dykes DD and Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:12151988. View Article : Google Scholar : PubMed/NCBI

13 

Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A and Caligo MA: BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: Novel mutations and unclassified variants. Gynecol Oncol. 125:687–692. 2012. View Article : Google Scholar : PubMed/NCBI

14 

Tazzite A, Nadiffi S, Kottwitz D, El Amrani M, Jouhadi H, Benider A, Moumen A and Sefrioui H: Specific BRCA1 gene variations amongst young Moroccan breast cancer patients. Genet Mol Res. 13:791–798. 2014. View Article : Google Scholar : PubMed/NCBI

15 

Laraqui A, Uhrhammer N, Rhaffouli HE, Sekhsokh Y, Lahlou-Amine I, Bajjou T, Hilali F, El Baghdadi J, Al Bouzidi A,, Bakri Y, et al: BRCA genetic screening in Middle Eastern and North African: Mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African. Dis Markers. 2015:1942932015. View Article : Google Scholar : PubMed/NCBI

16 

Elalaoui SC, Jaouad IC, Laarabi FZ and Elgueddari Bel K: Low level of consanguinity in Moroccan families at high risk of breast cancer. Asian Pac J Cancer Prev. 14:723–726. 2013. View Article : Google Scholar : PubMed/NCBI

17 

Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, et al: Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. Int J Med Sci. 10:60–67. 2013. View Article : Google Scholar : PubMed/NCBI

18 

Baker M: Next-generation sequencing: Adjusting to data overload. Nature Methods. 7:495–499. 2010. View Article : Google Scholar

19 

Chan M, Ji SM, Yeo ZX, Gan L, Yap E, Yap YS, Ng R, Tan PH, Ho GH, Ang P and Lee AS: Development of a next-generation sequencing method for BRCA mutation screening: Acomparison between a high-throughput and a benchtop platform. J Mol Diagn. 14:602–612. 2012. View Article : Google Scholar : PubMed/NCBI

20 

Costa JL, Sousa S, Justino A, Kay T, Fernandes S, Cirnes L, Schmitt F and Machado JC: Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting. Hum Mutat. 34:629–635. 2013. View Article : Google Scholar : PubMed/NCBI

21 

Bennett RL, French KS, Resta RG and Doyle DL: Standardized human pedigree nomenclature: Update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 17:424–433. 2008. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Jouali F, Laarabi FZ, Marchoudi N, Ratbi I, Elalaoui SC, Rhaissi H, Fekkak J and Sefiani A: First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene. Oncol Lett 12: 1192-1196, 2016.
APA
Jouali, F., Laarabi, F., Marchoudi, N., Ratbi, I., Elalaoui, S.C., Rhaissi, H. ... Sefiani, A. (2016). First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene. Oncology Letters, 12, 1192-1196. https://doi.org/10.3892/ol.2016.4739
MLA
Jouali, F., Laarabi, F., Marchoudi, N., Ratbi, I., Elalaoui, S. C., Rhaissi, H., Fekkak, J., Sefiani, A."First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene". Oncology Letters 12.2 (2016): 1192-1196.
Chicago
Jouali, F., Laarabi, F., Marchoudi, N., Ratbi, I., Elalaoui, S. C., Rhaissi, H., Fekkak, J., Sefiani, A."First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene". Oncology Letters 12, no. 2 (2016): 1192-1196. https://doi.org/10.3892/ol.2016.4739
Copy and paste a formatted citation
x
Spandidos Publications style
Jouali F, Laarabi FZ, Marchoudi N, Ratbi I, Elalaoui SC, Rhaissi H, Fekkak J and Sefiani A: First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene. Oncol Lett 12: 1192-1196, 2016.
APA
Jouali, F., Laarabi, F., Marchoudi, N., Ratbi, I., Elalaoui, S.C., Rhaissi, H. ... Sefiani, A. (2016). First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene. Oncology Letters, 12, 1192-1196. https://doi.org/10.3892/ol.2016.4739
MLA
Jouali, F., Laarabi, F., Marchoudi, N., Ratbi, I., Elalaoui, S. C., Rhaissi, H., Fekkak, J., Sefiani, A."First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene". Oncology Letters 12.2 (2016): 1192-1196.
Chicago
Jouali, F., Laarabi, F., Marchoudi, N., Ratbi, I., Elalaoui, S. C., Rhaissi, H., Fekkak, J., Sefiani, A."First application of next‑generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene". Oncology Letters 12, no. 2 (2016): 1192-1196. https://doi.org/10.3892/ol.2016.4739
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