Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Dorra BenAyed-Guerfali, Yassine Gdoura, Imen Boujelben, Souhir Guidara, Slim Charfi, Wiem Boudabbous, Saloua Ammar, Wiem Rhaiem, Mohamed Zaher Boudawara, Hassen Kamoun, Tahya Sallemi-Boudawara, Riadh Mhiri, Raja Mokdad-Gargouri
Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic pathogenic germline variants in the mismatch repair genes. Diagnosis and management of this syndrome is challenging, especially in low-resource settings. This study describes a patient diagnosed with colorectal cancer and grade 3 astrocytoma at the age of 11 and 12 respectively. Immunohistochemistry analysis showed a loss of MSH2 and MSH6 protein expression in CRC tissues of the patient...
April 30, 2024: Familial Cancer