Background: Though the incidence of colorectal carcinoma (CRC) is relatively uncommon in Nigeria, compared to the developed countries, recent studies indicate an increasing trend. Our patients often present at an earlier age, which has important implications for the pathogenesis in Nigeria. MLH1, MSH2, MSH6, PMS2 are the commonly mutated MMR genes in descending order of frequency, with PMS1 and...

Introduction : Aberrant expression of CK7/CK20/CDX2 is reported in percentage colorectal carcinomas (CRC). Aim The objective this study was to investigate specific morphological and immunohistochemical characteristics carcinoma with KRAS mutation status microsatellite instability. Materials methods Seventy-one patients CRC examined were included the investigation. Immunohistochemistry performed...


 Background. Epithelial ovarian carcinomas (EOCs) are lethal female genital tract malignancies with high-grade serous, low-grade endometrioid, clear cell, mucinous and malignant Brenner subtypes. The lifetime risk for developing carcinoma (OC) is 15% in females who have mismatch repair deficiency (MMR-d). MMR-d associated Lynch syndrome, a cancer predisposition condition. Patients may ben...

BACKGROUND Multigene panels can be a cost- and time-effective alternative to sequentially testing multiple genes, especially with a mixed family cancer phenotype. However, moving beyond our single-gene testing paradigm has unveiled many new challenges to the clinician. The purpose of this article is to familiarize the reader with some of the challenges, as well as potential opportunities, of ex...

We have studied the meiotic non-Mendelian segregation (NMS) pattern of seven large heterologous combinations located in the b2 ascospore gene of Ascobolus. The NMS patterns of these aberration heterozygotes widely differ from each other and from those of point mutations located in the same genetic region. They give lower gene conversion frequencies than point mutations, no postmeiotic segregati...

Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcin...

Background Hereditary Breast and Ovarian Cancer (HBOC) syndrome due to mutations in BRCA1 and BRCA2 is associated with an increase in risk for primarily breast cancer and ovarian cancer. Lynch syndrome (LS), due to mutations in MLH1, MSH2, MSH6, and PMS2 is typically associated with an increase in risk for chiefly colorectal cancer and endometrial cancer. Ovarian cancer risk is also increased i...

Background Turcot syndrome is clinically characterized by the occurrence of primary brain tumors, colorectal cancer and/or accompanying adenomas. It has been described as both an autosomal dominant and recessive condition and mutations in APC, MLH1, MSH2, MSH6 and PMS2 have been reported. Constitutional Mismatch repair (CMMR) deficiency is a variant of Lynch syndrome (LS) associated with bialle...