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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population
International Journal of Medical Sciences, Volume 10, No. 1, Year 2012
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Description
Worldwide variation in the distribution of BRCA mutations is well recognised, and for the Moroccan population no comprehensive studies about BRCA mutation spectra or frequencies have been published. We therefore performed mutation analysis of the BRCA1 gene in 121 Moroccan women diagnosed with breast cancer. All cases completed epidemiology and family history questionnaires and provided a DNA sample for BRCA testing. Mutation analysis was performed by direct DNA sequencing of all coding exons and flanking intron sequences of the BRCA1 gene. 31.6 % (6/19) of familial cases and 1 % (1/102) of early-onset sporadic (< 45 years) were found to be associated with BRCA1 mutations. The pathogenic mutations included two frame-shift mutations (c.798_799delTT, c.1016dupA), one missense mutation (c.5095C>T), and one nonsense mutation (c.4942A>T). The c.798_799delTT mutation was also observed in Algerian and Tunisian BC families, suggesting the first non-Jewish founder mutation to be described in Northern Africa. In addition, ten different unclassified variants were detected in BRCA1, none of which were predicted to affect splicing. Most unclassified variants were placed in Align-GVGD classes suggesting neutrality. c.5117G>C involves a highly conserved amino acid suggestive of interfering with function (Align-GVGD class C55), but has been observed in conjunction with a deleterious mutation in a Tunisian family. These findings reflect the genetic heterogeneity of the Moroccan population and are relevant to genetic counselling and clinical management. The role of BRCA2 in BC in Morocco is also under study. Our study is the first molecular investigation of the role of the BRCA genes in breast and ovarian cancer in Morocco. © Ivyspring International Publisher.
Authors & Co-Authors
Laraqui, Abdelilah
Morocco, Agdal Rabat
Military Hospital Mohammed V
Morocco, Rabat
Faculté Des Sciences Rabat
Uhrhammer, Nancy A.
France, Clermont-ferrand
Centre Jean Perrin
Lahlou-Amine, Idriss
Morocco, Agdal Rabat
Military Hospital Mohammed V
El Rhaffouli, Hicham
Morocco, Agdal Rabat
Military Hospital Mohammed V
El-Baghdadi, Jamila
Morocco, Agdal Rabat
Military Hospital Mohammed V
Mohamed, Dehayni
Morocco, Agdal Rabat
Military Hospital Mohammed V
Driss, Moussaoui Rahali
Morocco, Agdal Rabat
Military Hospital Mohammed V
Mohamed, Ichou
Morocco, Agdal Rabat
Military Hospital Mohammed V
Sbitti, Yassir
Morocco, Agdal Rabat
Military Hospital Mohammed V
Al Bouzidi, Abderrahmane
Morocco, Agdal Rabat
Military Hospital Mohammed V
Amzazi, Saaid
Morocco, Rabat
Faculté Des Sciences Rabat
Bignon, Yves Jean
France, Clermont-ferrand
Centre Jean Perrin
Statistics
Citations: 60
Authors: 12
Affiliations: 3
Identifiers
Doi:
10.7150/ijms.5014
ISSN:
14491907
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Morocco
Participants Gender
Female