desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (fap) as an extra-colonic manifestation of the disease. fap can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. although mild or attenuated fap may follow mutations in 5΄ extreme of the gene, it is more likely that ...

OBJECTIVE To validate the targeted next-generation sequencing (NGS) platform-Ion Torrent PGM for KRAS exon 2 and expanded RAS mutations detection in formalin-fixed paraffin-embedded (FFPE) colorectal cancer (CRC) specimens, with comparison of Sanger sequencing and ARMS-Scorpion real-time PCR. SETTING Beijing, China. PARTICIPANTS 51 archived FFPE CRC samples (36 men, 15 women) were retrospec...

Background & Aims: Thyroid cancer is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) is an aggressive malignant tumor arising from parafollicular cells of the thyroid. MTC occurs in hereditary (25%, hMTC) or sporadic (75%, sMTC) forms. The hMTC form has an autosomal dominant inheritance. RET proto-oncogene mutations, especially the 10, 11, and 16 exones, are associated w...

PURPOSE Cetuximab demonstrates improved efficacy outcomes in patients with metastatic colorectal cancer (mCRC) harboring wild-type KRAS exon 2. Resistance to cetuximab is mediated by activating less frequent mutations in the RAS genes beyond KRAS exon 2. We performed extended RAS Mutational analysis using a high-throughput genotyping platform (OncoMap) and evaluated extended RAS analysis for pr...

in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...

Bligon goat is one of the crossbred goats raised in Indonesia, which has a prolific nature, potentially increasing economic benefits. The gene that particularly influences traits Growth Differentiation Factor 9 (GDF9). This study aims to identify mutation analysis (SNPs and amino acid changes) restriction enzymes map GDF9 goats. Six pairs primers were used amplify target sequences by polymerase...

diacylglycerol acyltransferase1 (dgat1) has been introduced as a strong potential candidate gene for milk fat content in cattle. dgat1 gene plays a key role in the final step of triglyceride synthesis. in this study, the genetic variability in the region spanning exon 1 to exon 2 of the buffalo dgat1 gene was investigated by dna sequencing. two hundred buffaloes belonging to three indigenous po...

Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile...