
MYH ASSOCIATED POLYPOSIS WITH A p.Tyr165Cys MUTATION IN A MOROCCAN PATIENT Laarabi FZ1,*, Jaouad IC1, El Kerch F1, Sefiani A1,2 *Corresponding Author: Ms. Fatima Zahra Laarabi, Département de Génétique Médicale, Institut
National d’Hygiène, 27, Avenue Ibn Battouta, B.P. 769 Rabat, Morocco; Tel.: +212(0)37-77-19-
02; Fax: 212(0)37-77-20-67; E-mail: fz_laarabi@yahoo.fr page: 65
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RESULTS AND DISCUSSION
The molecular analysis of the MYH gene in this patient showed that he carried the p.Tyr165Cys (c.494A>G) mutation in a homozygous state (Figure 1). This is the first association report between colorectal cancer and the MYH mutation p.Tyr165Cys in Morocco.
Morocco, screening for MYH mutations should be considered in young patients presenting with sporadic colorectal cancer, even with a limited number of adenomas. A variable number of polyps (ranging from five to 100) and early onset colorectal cancer; absence of vertical transmission from parent to offspring, sporadic or multiple-case presentations within one generation, are characteristic of an autosomal recessive pattern of inheritance [5] and represent a clinical-genetic picture of MAP. This observation is similar to those described in previous studies [3,6,7] and confirms that MYH mutations are not frequent in the general population [8].
In Morocco, consanguineous marriage is culturally favored and is an integral part of the country's cultural and social life. The high rate of consanguinity (15.25%) explains the prevalence of autosomal recessive diseases in the country [9]. Therefore, we expect that MAP may be more common in this country than in developed countries. This consideration should be integrated in any colorectal cancer surveillance program.
In conclusion, patients with a classical or attenuated form of polyposis coli should be screened for MYH mutations. Identification of MYH mutations has important implications for the diagnosis, screening, genetic counseling, follow-up and therapeutic options in patients with colorectal cancer. Gene testing should identify siblings of MAP cases who are at risk and clarify the genetic status of spouses of those with biallelic mutations, so that their offspring can be counseled.
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