123-Full Molecular Screening of Colon Cancer in Patients Inherited Familial/Highly Germline BRCA1 and BRCA2 Mutations
https://www.researchsquare.com/article/rs-966714/v1
Background: A significant body of research has presented evidence regarding an increasing number of cases of early colon cancer among young people. The present study aimed to assess the inherited germinal mutations in breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) coding areas in four consanguineous cases in generations of a single Saudi family.
Methods: The sample consisted of a single Saudi family of four generations in Riyadh, Saudi Arabia. The family has been diagnosed with colon cancer and inherited germline mutations in BRCA1 and BRCA2. DNA sequencing was used to examine the entire coding BRCA1 and BRCA2 sections. The colon samples were immunohistochemically and histologically analysed using BRCA1 and BRCA2 antibodies and H&E Staining Kit (Hematoxylin and Eosin), respectively.
Results: A total of 21 scenarios at-risk consanguineous cases were mutations carriers of the BRCA genes (2 BRCA2 and 4 BRCA1), comprised of 3 affected consanguineous cases with malignant colon cancer. The BRCA nucleotide sequencing revealed substantial mutation’s cases in the BRCA1 genes (frameshift mutations situated within exon 11 and exon 2, where no such mutations were present in the BRCA2 genes). A novel replacement mutation within BRCA2 (exon 18) of 139 C > A was obtained with (45.83%) in females and (31.26%) in males. Immunohistochemical staining showed positive staining for BRCA1 an
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