title: Identification of a founder BRCA1 mutation in the Moroccan population.
abstract: Breast cancer (BC) is the most frequent cancer among women in Morocco. However, the role of the most prevalent BC-predisposing genes, BRCA1 and BRCA2, has been largely unexplored. To help define the role of BRCA1 in BC in Morocco, we characterized the first potential BRCA1 founder mutation in this population. Genetic testing of BRCA1 and BRCA2 in BC high-risk families identified mutation BRCA1 c.5309G>T, p.(Gly1770Val) or G1770V in five independent families from Morocco, suggesting a founder effect. To confirm this hypothesis, haplotype construction was performed using seven intragenic and flanking BRCA1 microsatellite markers. Clinical data were also compiled. Clinical data from carriers of mutation G1770V correspond to data from carriers of BRCA1 pathogenic mutations. Microsatellite analysis showed a common haplotype for the five families in a region comprising 1.54 Mb, confirming G1770V as the first specific founder BRCA1 mutation in the Moroccan population. Our findings contribute to a better understanding of BC genetics in the Moroccan population. Nevertheless, comprehensive studies of mutation G1770V in large series of BC patients from Morocco are needed to assess the real prevalence of this mutation and to improve genetic testing and risk assessment in this population.
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: F
authors: F
authors: Quiles
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: À
authors: À
authors: Teulé
authors: Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
authors: N
authors: N
authors: Martinussen Tandstad
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: L
authors: L
authors: Feliubadaló
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: E
authors: E
authors: Tornero
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: J
authors: J
authors: Del Valle
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: M
authors: M
authors: Menéndez
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: M
authors: M
authors: Salinas
authors: Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
authors: V
authors: V
authors: Wethe Rognlien
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: A
authors: A
authors: Velasco
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: A
authors: A
authors: Izquierdo
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: G
authors: G
authors: Capellá
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain.
authors: J
authors: J
authors: Brunet
authors: Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP), L'Hospitalet de Llobregat, Barcelona, Spain. clazaro@iconcologia.net.
authors: C
authors: C
authors: Lázaro
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000737:chemistry / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats; D008875:Middle Aged; D009018:Morocco; D009154:Mutation; D010375:Pedigree
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
keywords: BRCA1; Morocco; breast; cancer; founder mutation; genetics; hereditary