نتایج جستجو برای: brca2 gene promoter

تعداد نتایج: 1174704  

2012
Satish Gupta Katarzyna Jaworska Anna Jakubowska Tomasz K Wojdacz Lise Lotte Hansen Jan Lubiński

Recently, much attention is paid to the phenomenon of gene’s hypermethylation in the peripheral blood (PB) and its involvement in the pathology of cancer. Breast cancer is a complex disease driven by multiple factors including both genetic and epigenetic processes. Genetic changes associated with breast cancer are not completely known, but epigenetic mechanisms involved in this disease seem to ...

Journal: :Journal of medical genetics 2014
Stefan Meyer Marc Tischkowitz Kate Chandler Alan Gillespie Jillian M Birch D Gareth Evans

Fanconi anaemia (FA) is an inherited condition characterised by congenital and developmental abnormalities and a strong cancer predisposition. In around 3-5% of cases FA is caused by biallelic mutations in the BRCA2 gene. Individuals heterozygous for BRCA2 mutations have an increased risk of inherited breast and ovarian cancer. We reviewed the mutation spectrum in BRCA2-associated FA, and the s...

Journal: :Cancer research 1999
C Schmutte G Tombline K Rhiem M M Sadoff R Schmutzler A von Deimling R Fishel

Human Rad51 (hRad51) has been found to be associated with BRCA1, BRCA2, and p53 either directly or indirectly and is one of at least eight human genes that are members of the Escherichia coli RecA/Saccharomyces cerevisiae Rad51 family thought to affect genomic stability through DNA recombination/repair processes. While inactivation of DNA mismatch repair clearly leads to instability of repeated...

2002
U Hamann X Liu S Lange H U Ulmer A Benner R J Scott

Breast cancer is the most common malignancy affecting women world wide. Approximately 1 in 10 women will develop breast cancer during their life time and 5-10% of all breast cancers, in particular those with an early age of onset, are the result of a genetic predisposition owing to the inheritance of a dominant susceptibility gene(s). In the context of high risk families, one important gene is ...

Journal: :Blood 2004
John E Wagner Jakub Tolar Orna Levran Thomas Scholl Amie Deffenbaugh Jaya Satagopan Leah Ben-Porat Katherine Mah Sat Dev Batish David I Kutler Margaret L MacMillan Helmut Hanenberg Arleen D Auerbach

The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in con...

Journal: :journal of livestock science and technologies 2015
a. maghsoudi a. a. masoudi r. vaez torshizi m. a. karimi torshizi z. mohammad hassan

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...

ادیبی, ندا, امیدفر, کبری, راز, عباسعلی, شفیعی, سحر, عنابستانی, زهره, منصوری, معصومه, میرزایی زاده, زهرا, هاشمی, مهرداد,

Background: Type 2 diabetes is the most common type of diabetes, and a complex endocrine metabolic disorder that one of its main complications is diabetic foot ulcers. Matrix metalloproteinases (MMPs) are one of the key enzymes in the reconstruction of extracellular matrix which have proteolytic activity. The aim of this research is based on evaluating relationship between -1562 C>T allele at M...

Azar Baradaran Farahnaz Mardanian Fatemeh Sadat Mostafavi, Roshanak Abutorabi Yasaman Zarrin

Background The pro-inflammatory cytokine, tumor necrosis factor-alpha (TNF-α), is a pathogenic element for a number of disorders. Previous studies have reported that the -1031 T/C and -238 G/A polymorphisms in the promoter region of the TNF-α gene are important factors in reproductive-related disorders. One of the most common gynecological diseases of women during the reproductive years is endo...

Promoter methylation is one of the main epigenetic mechanisms that lead to the inactivation of tumor suppressor genes during carcinogenesis. Due to the reversible nature of DNA methylation, many studies have been performed to correct theses epigenetic defects by inhibiting DNA methyltransferases (DNMTs). In this case novel therapeutics especially siRNA oligonucleotides have been used to specifi...

Journal: :Journal of medical genetics 2002
U Hamann X Liu S Lange H U Ulmer A Benner R J Scott

Breast cancer is the most common malignancy affecting women world wide. Approximately 1 in 10 women will develop breast cancer during their life time and 5-10% of all breast cancers, in particular those with an early age of onset, are the result of a genetic predisposition owing to the inheritance of a dominant susceptibility gene(s). In the context of high risk families, one important gene is ...

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