R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population.

Colorectal cancer (CRC) is one of the most common cancers worldwide. Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent.

A novel mutation in the TSC2 gene protects against colorectal cancer in the Mexican population.

Introduction: Colorectal cancer (CRC) is a complex disease due to the large number of factors that influence its development, including variants in tumor suppressor genes.

Objective: To estimate allelic and genotypic frequencies of c.3915G>A and c.

Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer.

Background: Colorectal cancer is the second cause of death by cancer around the world. Sporadic colorectal cancer is the most frequent (75%), and it is produced by the interaction of environmental, epigenetic, and genetic factors. The accumulation of single-nucleotide variants in genes associated with cell proliferation, DNA repair, and/or apoptosis could confer a risk to cancer.

Association between genetic variant rs2267716 of gene with colorectal cancer.

Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 (), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways.

Methylation analysis of MIR200 family in Mexican patients with colorectal cancer.

The present study aimed to analyze the methylation pattern of the family in the colorectal tissues and peripheral blood of colorectal cancer (CRC) patients. Previous informed consent, 102 samples of colorectal tissues (tumor and adjacent normal tissues) and 40 peripheral blood samples were collected from CRC patients. Additionally, we included a reference group of 40 blood samples.

Association of the MTHFR 677C>T Polymorphism with Obesity and Biochemical Variables in a Young Population of Mexico.

Background: Methylenetetrahydrofolate reductase () gene polymorphisms have been associated with overweight people and obesity. The goal of this study was to investigate the relationship of the 677C>T polymorphism with obesity and biochemical variables in young individuals of Mexico.

Methods: A total of 316 young individuals were included in the study, 172 with normal weight (NW) and 144 with over weight/obesity.

ADIPOQ rs2241766 SNP as protective marker against DIBC development in Mexican population.

Background: Adiponectin protein and some variations in its gene, ADIPOQ have recently been associated with cancer because they regulate glucose and lipid metabolism as well as anti-apoptotic and anti-inflammatory proteins.

Aim: The aim of this study was to analyse the relationship between selected biochemical markers, anthropometric indices and ADIPOQ rs2241766 and rs1501299 SNPs in ductal infiltrating breast cancer (DIBC) in a Mexican population.

Methods: This cross-sectional study included 64 DIBC patients and 167 healthy women.

Polymorphisms of the XRCC1 gene and breast cancer risk in the Mexican population.

The purpose of this case-control study was to evaluate the association of XRCC1 Arg194Trp and Arg399Gln polymorphisms with susceptibility to breast cancer (BC) in a Mexican population. We analysed DNA samples from 345 BC patients and 352 control subjects by polymerase chain reaction-restriction fragment length polymorphism. The frequency of the 399Gln allele was 23% in controls and 29% in patients [OR 1.

46,XX ovotesticular disorder in a Mexican patient with Beckwith-Wiedemann syndrome: a case report.

Introduction: Beckwith-Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith-Wiedemann syndrome cases are sporadic. Beckwith-Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region.

Association of LEP and ADIPOQ common variants with colorectal cancer in Mexican patients.

Leptin and adiponectin are cytokines produced by adipose tissue with opposite effects on tumor growth: the former stimulate whereas the latter inhibit it. The objective was to analyze the association of LEP A19G and ADIPOQ+45 T/G and +276 G/T polymorphisms in Mexican patients with colorectal cancer (CRC). 68 unrelated patients with CRC (study group) and 102 blood donors (control group); all subjects were Mestizos from western Mexico.

MDR1 C3435T polymorphism in Mexican children with acute lymphoblastic leukemia and in healthy individuals.

To determine the influence of the MDR1 C3435T polymorphism on the development of childhood acute lymphoblastic leukemia (ALL), we studied 107 children with ALL and 111 healthy subjects. All subjects were genotyped for the C3435T polymorphism using the polymerase chain reaction-restriction fragment length polymorphism method. The genotype frequencies in the patients were 17% homozygous CC, 61% heterozygous CT, and 22% homozygous TT; in healthy individuals the genotype frequencies were 14% CC, 53% CT, and 33% TT.

Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

The osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2). This group of osteochondrodysplasias shows a continuous spectrum of clinical variability and shares many features in common.

Femoral-facial syndrome with malformations in the central nervous system.

The femoral hypoplasia-unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum.

True vs. false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21.

A boy with Down syndrome due to a free trisomy 21 also had a metacentric Y chromosome with an arm euchromatic and the other heterochromatic inherited from his phenotypically normal father. This chromosome was mitotically stable and hybridized with the DYZ3 probe precisely at its primary constriction; in addition, a subtelomeric Xp/Yp probe gave the expected signal near the end of the euchromatic arm. So, the proband's karyotype was 47,X,inv(Y)(p11q11.