نتایج جستجو برای: familial breast cancer
تعداد نتایج: 1032090 فیلتر نتایج به سال:
Breast cancer is the leading cause of cancer in females in Austria (25% of all newly diagnosed cancer cases). So far no comprehensive theory about etiology exists. Risk factors generally considered to be established are: demographic, reproductive and hormonal factors, diet, benign breast disease, familial aggregation and genetics. Most of the risk factors cannot be affected by primary preventio...
This text book is a timely publication and it gives a splendid overview of the genetics and management of familial breast and ovarian cancer. The book is edited by Professor Morrison and his colleagues and they have drawn together a national and an international list ofcontributors well respected in their fields. The book begins with a series of book chapters on molecular biology of these tumours.
The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A > T transversion in the final exon of the gene that leads to the creation of a stop codon 93 amino acids early (K3326*), is reported as a neutral polymorphism but there is some evidence to suggest an association with an increased risk of breast cancer. We assessed...
Despite recent declines in its incidence, endometrial cancer remains the most common cancer of the female reproductive tract in the United States and in the western world. Well established risk factors include exposure to unopposed oestrogen, older age, nulliparity, obesity, and smoking. There are inconsistent reports on the association between endometrial cancer risk and family history of any ...
BACKGROUND Only 5% of all breast cancers are the result of BRCA1/2 mutations. Methylation silencing of tumor suppressor genes is well described in sporadic breast cancer; however, its role in familial breast cancer is not known. METHODS CpG island promoter methylation was tested in the initial random periareolar fine-needle aspiration sample from 109 asymptomatic women at high risk for breast...
Hereditary breast cancer comprises 10% of all breast cancers. The most prevalent genes causing this pathology are BRCA1 and BRCA2 (breast cancer early onset 1 and 2), which also predispose to other cancers. Despite the outstanding relevance of genetic screening of BRCA deleterious variants in patients with a history of familial cancer, this practice is not common in Latin American public instit...
The identification of the two most prevalent susceptibility genes in breast cancer, BRCA1 and BRCA2, was the beginning of a sustained effort to uncover new genes explaining the missing heritability in this disease. Today, additional high, moderate and low penetrance genes have been identified in breast cancer, such as P53, PTEN, STK11, PALB2 or ATM, globally accounting for around 35 percent of ...
Ultraconserved elements (UCEs) are segments of >200 bp length showing absolute sequence identity between orthologous regions of human, rat and mouse genomes. The selection factors acting on these UCEs are still unknown. Recent studies have shown that UCEs function as long-range enhancers of flanking genes or are involved in splicing when overlapping with exons. The depletion of UCEs among copy ...
Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000,...
PURPOSE AND METHODS High-level DNA amplifications are recurrently found in breast cancer, and some of them are associated with poor patient prognosis. To determine their frequency and co-occurrence in familial breast cancer, we have analyzed 80 tumors previously characterized for BRCA1 and BRCA2 germ-line mutations (26 BRCA1, 18 BRCA2, and 36 non-BRCA1/2) using high-resolution comparative genom...
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