Detection of MUTYH Gene Mutations in Hereditary Colorectal Cancer Libyan Families


  • Asma Abudabous Genetics and Biotechnology Department, Science Faculty, Misurata University, Libya
  • Ehsan M. Idris Genetics and Biotechnology Department, Science Faculty, Misurata University, Libya
  • Mustafa M . Drah 1Genetics and Biotechnology Department, Science Faculty, Misurata University, Libya
  • Halima A. Haded Zoology Department, Science Faculty, Misurata University, Libya
  • Afaf M. Aburwais Libyan Biotechnology Research Center, Misurata, Libya.



Colorectal Cancer (CRC) has become one of the most dangerous yet spreadable cancers, as a result of many wrong behaviors people do, in addition to being a hereditary disease. However, Libya was not included in a lot of studies due to the lack of adequate studies on infected CRC Libyan patients, thus this study aims to detect mutations in the MUTYH gene in Libyan families who heredity colorectal cancer. The study included 20 blood samples collected from (10 patients with hereditary colorectal cancer and 10 healthy people) all of them had a family history of this disease. Genomic DNA was extracted, amplified by PCR, and analyzed for MUTYH mutational status by direct sequencing. MUTYH mutations were present in 50% (10\20) of all analyzed samples. A total of 10 patients had MUTYH mutations in different positions; of which 5\10 (50%) had a deletion A in c.1140, 1\10 (10%) a patient had a substitution mutation in c.1149 C>N, 1\10 (10%) a patient had two type mutations, substitution mutation in c.1154 C>T and insertion CT inc.1153, 2/10 (20%) they had substitution mutation in c.1237 G>R, 1\10 (10%) a patient had substitution mutation in c.1140 A>C. This study concludes that indicates that analysis of the MYH gene should be performed in patients with multiple colorectal adenomas, On the other hand, it helped to clarify the type and frequency of MYH mutations among colorectal polyposis patients in Misurata. This study believes that an enlargement of the MUTYH mutation spectrum resulting from these types of studies will contribute to early detection and the prevention of secondary cancer development.



Abdelmaksoud-Dammak, R., Miladi-Abdennadher, I., Amouri, A., Tahri, N., Ayadi, L., Khabir, A., ... & Mokdad-Gargouri, R. (2012). High prevalence of the c. 1227_1228dup (p. Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. Familial cancer, 11(3), 503-508

Centelles, J. J. (2012). General aspects of colorectal cancer. International Scholarly Research Notices, 2012

Cheadle, J. P., & Sampson, J. R. (2007). MUTYH-associated polyposis—from defect in base excision repair to clinical genetic testing. DNA repair, 6(3), 274-279.

Elsaid, A., Elshazli, R., El-Tarapely, F., Darwish, H., & Abdel-Malak, C. (2017). Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer. Familial cancer, 16(1), 83-90.

Hitchins, M., Williams, R., Cheong, K., Halani, N., Lin, V. A., Packham, D., Ku, S., Buckle, A., Hawkins, N., Burn, J., Gallinger, S.,Goldblatt, J., Kirk, J., Tomlinson, I., Scott, R., Spigelman, A., Suter, C., Martin, D., Suthers, G., & Ward, R. (2005). MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology, 129(5), 1392–1399

Isidro, G., Laranjeira, F., Pires, A., Leite, J., Regateiro, F., e Sousa, F. C., ... & Boavida, M. G. (2004). Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Human mutation, 24(4), 353-354.

Jansen, M., Menko, F. H., Brosens, L. A., Giardiello, F. M., & Offerhaus, G. J. (2014). Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect?. Gastrointestinal endoscopy, 80(6), 1145–1155.

Jasperson, K. W., Tuohy, T. M., Neklason, D. W., & Burt, R. W. (2010). Hereditary and familial colon cancer. Gastroenterology, 138(6), 2044–2058.

Kdissa, A., Brusgaard, K., Ksiaa, M., Golli, L., Hallara, O., Ousager, L. B., ... & Gribaa, M. (2020). c. 1227_1228dupGG (p. Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis. Cancer Genetics, 240, 45-53.

Lefevre, J. H., Colas, C., Coulet, F., Baert‐Desurmont, S., Mongin, C., Tiret, E., ... & Parc, Y. (2011). Frequent mutation in North African patients with MUTYH‐associated polyposis. Clinical genetics, 80(4), 389-393.

Mahasneh, A., Al-Shaheri, F. N., & BaniHani, M. N. (2019). Association of a new germline variant in the MUTYH DNA glycosylase gene with colorectal adenoma transformation into malignancy. Iranian Biomedical Journal, 23(6), 412.

Olovo, C. V., Huang, X., Zheng, X., & Xu, M. (2021). Faecal microbial biomarkers in early diagnosis of colorectal cancer. Journal of cellular and molecular medicine, 25(23), 10783–10797.

Pitroski, C. E., Cossio, S. L., Koehler-Santos, P., Graudenz, M., Prolla, J. C., & Ashton-Prolla, P. (2011). Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. International journal of colorectal disease, 26(7), 841–846.

Sampson, J. R., Jones, S., Dolwani, S., & Cheadle, J. P. (2005). MutYH (MYH) and colorectal cancer. Biochemical Society Transactions, 33(4), 679-683.




How to Cite

Abudabous, A., Ehsan M. Idris, . Drah, M. M., Halima A. Haded, & Afaf M. Aburwais. (2023). Detection of MUTYH Gene Mutations in Hereditary Colorectal Cancer Libyan Families. Scientific Journal for Faculty of Science-Sirte University, 3(2), 162–166.