Absence of CHEK2 1100delC, R145W and I157T Mutations in Breast Cancer in a Moroccan Population

Amal ElAmrani^{1, 2}, Khalid Moumad¹, Mohammed Attaleb³, Mustapha Benhassou⁴, Asta Försti^{5, 6}, Moulay Mustapha Ennaji², Mohammed El Mzibri³ and Meriem Khyatti^1,

¹Oncovirology Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco

²Laboratory of Virology, Microbiology and Quality/EBQ, Faculty of Sciences & Technics University Hassan II Mohammedia-Casablanca, Mohammedia, Morocco

³Unité de Biologie et Recherche Médicale, Centre National de l'Energie, des Sciences et des Techniques Nucléaires, (CNESTEN), Rabat, Morocco

⁴Obstetrics Service "A" Maternité Lalla Meryem, CHU Ibn Rochd Casablanca, Morocco

⁵Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany

⁶Center for Primary Health Care Research, Clinical Research Center, Lund University, Malmö, Sweden

Cite this paper:
Amal ElAmrani, Khalid Moumad, Mohammed Attaleb, Mustapha Benhassou, Asta Försti, Moulay Mustapha Ennaji, Mohammed El Mzibri and Meriem Khyatti. Absence of CHEK2 1100delC, R145W and I157T Mutations in Breast Cancer in a Moroccan Population. Journal of Cancer Research and Treatment. 2014; 2(1):6-9. doi: 10.12691/jcrt-2-1-2

Abstract

Mutations in the BRCA1 and BRCA2 genes confer a high risk of breast cancer (BC), although they account for only a small fraction of BC susceptibility. Rare mutations in genes conferring moderate risk may contribute to BC risk. Previous studies have shown that mutations in the CHEK2 gene, which encodes for an upstream regulator of BRCA1, may cause a moderately increased BC risk. In the current study we investigated the status of three founder mutations in the CHEK2 gene (c.1100delC, R145W and I157T) using direct sequencing in 50 BC and 50 control samples. No mutations were detected. This result is in line with the postulated existence of a c.1100delC frequency gradient from the North to the South in Europe with higher frequencies in the Northern countries.

Keywords:
breast cancer CHEK2 mutations

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