BRCA2 has been implicated in the maintenance of genome stability and RAD51-mediated homologous recombination repair of chromosomal double-strand breaks (DSBs), but its role in these processes is unclear. To gain more insight into its role in homologous recombination, we expressed wild-type BRCA2 in the well-characterized BRCA2-deficient human cell line CAPAN-1 containing, as homologous recombin...

DNA methylation can mimic the effects of both germline and somatic mutations for cancer predisposition genes such as BRCA1 and p16INK4a. Constitutional DNA methylation of the BRCA1 promoter has been well described and is associated with an increased risk of early-onset breast cancers that have BRCA1-mutation associated histological features. The role of methylation in the context of other breas...

Fanconi anemia (FA) associated genes [FANCA, -B, -C, FANCD1(BRCA2), -D2, -E, -F, -G, -I, -L, -M, FANCN (PALB2), FANCJ(BRIP1) and FA-linked BRCA1] encode proteins of DNA damage response pathways mutated in FA patients. FA is characterized by congenital malformations, chromosomal instability and high cancer susceptibility. FA patients have a 500-700 times higher risk of head and neck squamous cel...

The aims of this study were to compare the promoter sequence of the mannose-binding lectin (cMBL) gene in Iranian native and commercial chicken strains; as well as to compare the cMBL gene expression in crossbred and inbred chickens. In total 79 native (Western Azerbaijan native fowls, WANF) and 49 commercial (Arian Commercial Strain, ACS) birds were reared as parents under same management prac...

PURPOSE Lung cancer cells frequently exhibit marked chromosome instability. We postulated that alterations of the double-strand break repair genes (BRCA1, BRCA2, and XRCC5) might be involved in lung cancer. PATIENTS AND METHODS We examined the loss of protein and mRNA expression and the 5'CpG hypermethylation and allelic imbalance of the BRCA1, BRCA2, and XRCC5 genes in 98 non-small cell lung...

aim : the aim of this study is to evaluate the polymorphism in bax gene and its association with some clinical pathology traits in gastric cancer.   background : gastric cancer is considered as the fourth most common cancer in the north and northwest of iran. bcl2 family has a key role in regulation of apoptosis, and any changes in the expression of bcl2 lead to cancer. patients and methods : b...

Mutations in the BRCA1 and BRCA2 genes are known risk factors drivers of breast ovarian cancers. So far, few studies have been focused on understanding differences transcriptome functional landscapes associated with disease (breast vs. cancers), gene (BRCA1 BRCA2), mutation type (germline somatic). In this study, we were aimed at systemic evaluation association germline somatic mutations expres...

Inherited mutations in the BRCA2 gene predispose women to breast and ovarian cancer. We created a mutation in the mouse Brca2 gene that terminates translation in exon 11 at 45% of the normal transcript length. Ninety % of Brca2""ICl"n homozygous mutant mice die prenatally or perinatally. The location of the Brca2""'c<"" mutation differs from those reported previously, and this phenotype suggest...

Background and Objectives: Significant progress has been made in treatment of hemophilia. Ex-vivo gene therapy is going popular due to the capability of this method in using isogenic cells for genetic manipulation and reintroducing them into same host after proliferation. Most gene therapy techniques use viral vectors, which usually harbor a strong and non-specific promoter (e...